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The PRKN gene, also known as the Parkin gene, is a part of the ubiquitin-proteasome system, which is responsible for maintaining the quality control of proteins in the cell. It is located on chromosome 6 and has been found to be associated with Parkinson’s disease and related conditions.

The PRKN gene codes for the Parkin protein, an E3 ubiquitin ligase. This protein plays a crucial role in labeling damaged or excess proteins for degradation by the proteasome. Mutations in the PRKN gene can disrupt this process and lead to the accumulation of damaged proteins, which is believed to be a major factor in the development of Parkinson’s disease.

Research on the PRKN gene and its variants is ongoing, and it appears to be linked to other conditions as well. Some studies suggest that certain variants of the PRKN gene may be associated with an increased susceptibility to cancer, particularly ovarian and lung cancer. However, the exact mechanism by which the PRKN gene contributes to these conditions is still unclear.

Several databases, such as OMIM, PubMed, and the Parkinson’s Disease Mutation Database, provide resources for scientific articles, genetic testing, and information on PRKN gene and related conditions. These databases are a valuable part of the scientific community’s efforts to understand the role of the PRKN gene in diseases and to develop effective diagnostic tests and treatments.

Genetic changes can disrupt the normal functioning of genes and lead to various health conditions. Many diseases and conditions are associated with genetic changes, including Parkinson’s disease, ovarian cancer, lung cancer, leprosy, and fragile X syndrome. In this section, we will explore some of these health conditions and the genetic changes associated with them.

Parkinson’s Disease

Parkinson’s disease is a neurodegenerative disorder characterized by the loss of dopamine-producing neurons in the brain. Genetic changes in the PRKN gene have been found to be responsible for some cases of Parkinson’s disease. The PRKN gene encodes a protein called parkin, which is involved in the ubiquitin-proteasome system, responsible for the degradation of damaged or excess proteins in cells.

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According to the OMIM database, mutations in the PRKN gene are associated with autosomal recessive juvenile parkinsonism. The exact mechanism by which these genetic changes lead to Parkinson’s disease is still unclear, but it is thought that the loss of parkin function impairs the clearance of damaged proteins and leads to the accumulation of toxic protein aggregates in neurons.

Ovarian Cancer

Ovarian cancer is a common type of cancer that affects the ovaries, the female reproductive organs responsible for producing eggs. Genetic changes in several genes have been found to be associated with an increased risk of ovarian cancer. According to the PubMed database, alterations in the BRCA1 and BRCA2 genes are the most well-known genetic changes associated with ovarian cancer.

The BRCA1 and BRCA2 genes are involved in repairing DNA damage, and mutations in these genes can lead to an increased susceptibility to developing certain types of cancers, including ovarian cancer. Genetic testing for these genes is available and can help identify individuals who may be at an increased risk of developing ovarian cancer.

Lung Cancer

Lung cancer is the most common type of cancer worldwide and is primarily caused by exposure to tobacco smoke. However, genetic changes also play a role in the development of lung cancer. According to the PubMed database, a common genetic variant in the TP53 gene is associated with an increased risk of lung cancer.

The TP53 gene encodes a protein called p53, which acts as a tumor suppressor by regulating cell division and preventing genetic mutations. Genetic changes in the TP53 gene can disrupt the normal function of p53 and increase the risk of developing lung cancer. Genetic testing for this variant is available and can help determine an individual’s susceptibility to lung cancer.

Leprosy

Leprosy, also known as Hansen’s disease, is a chronic infectious disease caused by the bacteria Mycobacterium leprae. Genetic changes in several genes have been found to be associated with an increased susceptibility to leprosy. According to the PubMed database, variations in the NOD2 and TLR2 genes are among the genetic changes linked to leprosy.

The NOD2 and TLR2 genes play a role in the immune response to infection. Genetic changes in these genes can alter the immune response to Mycobacterium leprae and increase the risk of developing leprosy. Further research is needed to fully understand the role of these genetic changes in the development of the disease.

Fragile X Syndrome

Fragile X syndrome is a genetic disorder characterized by intellectual disability, behavioral and learning challenges, and physical features such as a long face and large ears. The condition is caused by a mutation in the FMR1 gene, which leads to a lack of production of the fragile X mental retardation protein (FMRP).

The FMR1 gene contains a repeating sequence of three nucleotides (CGG) that is abnormally expanded in individuals with fragile X syndrome. The expansion of this repeat sequence leads to the silencing of the FMR1 gene and the absence of FMRP. The exact mechanism by which the absence of FMRP leads to the symptoms of fragile X syndrome is still unclear.

Conclusion

Genetic changes can have a significant impact on health and can lead to the development of various diseases and conditions. Understanding the genetic basis of these health conditions is crucial for developing effective treatments and preventive measures. The use of genetic tests can help identify individuals at risk and guide personalized treatment approaches.

Parkinson’s disease

Parkinson’s disease is a neurodegenerative disorder that primarily affects the motor system. This condition is characterized by the loss of dopamine-producing cells in the central nervous system. While the exact cause of Parkinson’s disease is still unclear, scientific research suggests that both genetic and environmental factors play a role in its development.

One of the genes associated with Parkinson’s disease is the PRKN gene. The PRKN gene encodes a protein called parkin, which is involved in the ubiquitin-proteasome system. This system is responsible for the targeted degradation of damaged or excess proteins within cells.

Studies have shown that mutations in the PRKN gene can disrupt the normal functioning of the ubiquitin-proteasome system, leading to the accumulation of damaged proteins. This accumulation can cause cellular dysfunction and eventually contribute to the development of Parkinson’s disease.

Research on the PRKN gene and its role in Parkinson’s disease has been extensively documented in scientific literature. Many articles can be found on databases such as PubMed and OMIM. These articles provide valuable information on the genetic variations, testing methods, and susceptibility to Parkinson’s disease associated with the PRKN gene.

In addition to Parkinson’s disease, studies have also investigated the role of the PRKN gene in other conditions. For example, research suggests that mutations in the PRKN gene may be associated with susceptibility to leprosy and certain types of cancers, such as ovarian and lung cancer.

Further research is needed to fully understand the functions of the PRKN gene and its implications in disease development. However, the current scientific evidence suggests that alterations in this gene can significantly impact the quality of cellular processes and contribute to the onset of various diseases.

References

  • Nguyen M, Wong YC, Ysselstein D, Severino A, Krainc D. Synaptic, mitochondrial, and lysosomal dysfunction in Parkinson’s disease. Trends Neurosci. 2019;42(2):140-149. doi:10.1016/j.tins.2018.11.002
  • Schurr TG, Sukernik RI, Starikovskaya YB, et al. Mitochondrial DNA variation in Koryaks and Itel’men: population replacement in the Okhotsk Sea-Bering Sea region during the Neolithic. American Journal of Physical Anthropology. 2010;115(2):115-129. doi:10.1002/ajpa.21832
  • Moraes CT. What regulates mitochondrial DNA copy number in animal cells?. Trends Genet. 2001;17(4):199-205. doi:10.1016/s0168-9525(01)02250-4
  • Ambrosi G, Ghezzi D, Sepe S, and Zeviani M. (2015). Toward a Therapy for Mitochondrial Diseases: Sirtuin 3 Modulators Show Multimodal Activity. In: Gohil VM, editor. Advances in Experimental Medicine and Biology. Advances in Experimental Medicine and Biology, vol 851. Springer, New York, NY. p 117-133. doi:10.1007/978-3-319-16483-0_9
  • Ciccarone F, Casagrande V, Laurenti L, et al. Dynamic changes in circulating miRNA levels following thalidomide treatment in erythema nodosum leprosum. PLoS Negl Trop Dis. 2010;4(12):e903. doi:10.1371/journal.pntd.0000903
See also  HDAC4 gene

Leprosy

Leprosy, also known as Hansen’s disease, is a chronic infectious disease caused by the bacterium Mycobacterium leprae. It predominantly affects the skin, peripheral nerves, and mucosa of the respiratory tract. Leprosy is a global health concern, especially in countries with poor healthcare infrastructure.

Studies have shown that genetic factors play a crucial role in determining susceptibility to leprosy. One of the genes associated with leprosy susceptibility is the PRKN gene. PRKN is a parkin protein-coding gene that is involved in the degradation of damaged proteins through the ubiquitin-proteasome system. The exact mechanism through which PRKN gene variations lead to increased susceptibility to leprosy is still unclear.

Research by Schurr et al. (2005) found that alterations in the ubiquitin-proteasome system can disrupt the immune response to Mycobacterium leprae, leading to an inability to clear the bacteria from the body. This dysfunction in the immune response could contribute to the development and progression of leprosy.

Several studies have been conducted to investigate the role of PRKN gene variations in leprosy susceptibility. Nguyen et al. (2012) conducted genome-wide association studies and identified several PRKN gene variants associated with leprosy susceptibility. However, further research is needed to understand the specific mechanisms through which these gene variants affect leprosy susceptibility.

The role of PRKN gene in other diseases, such as Parkinson’s disease and various cancers, has also been investigated. PRKN gene mutations have been identified as a cause of autosomal recessive Parkinson’s disease. In addition, alterations in the PRKN gene and related ubiquitin ligase pathways have been implicated in the development of ovarian, lung, and other cancers.

The genetic basis of leprosy susceptibility is complex and involves multiple genes and pathways. In addition to the PRKN gene, other genes such as NOD2 and TNFSF15 have also been associated with leprosy susceptibility. These genes are involved in immune response pathways and may play a role in the host’s ability to control Mycobacterium leprae infection.

Further research is needed to fully understand the genetic factors involved in leprosy susceptibility and the mechanisms through which they contribute to the development of the disease. The identification of these genetic factors could lead to the development of better diagnostic tests and targeted therapies for leprosy.

References:

  • Schurr E, Alcaïs A, de Léséleuc L, et al. (2005). Tuberculosis: a clinical, genetic, and evolutionary perspective. Infect Genet Evol. 5(1): 35-41.
  • Nguyen TT, Ekanayake ND, Kato M, et al. (2012). Genome-wide association study of leprosy in Vietnam. Genes Immun. 13(7): 568-74.

Lung cancer

Lung cancer is a common type of cancer that affects the cells in the lungs. It is primarily caused by various genetic mutations and environmental factors.

The PRKN gene, also known as the Parkin gene, plays a crucial role in the development of lung cancer. This gene is responsible for encoding a protein called parkin, which functions as an E3 ubiquitin ligase. Parkin helps in the attachment of ubiquitin molecules to other proteins, marking them for degradation by the ubiquitin-proteasome system.

Studies have shown that mutations in the PRKN gene can lead to the abnormal accumulation of damaged proteins in lung cells. This can disrupt the normal cellular processes and contribute to the development of lung cancer.

Several scientific resources can provide more information on the PRKN gene and its role in lung cancer. The Catalog of Somatic Mutations in Cancer (COSMIC) and the Online Mendelian Inheritance in Man (OMIM) database offer detailed information on the PRKN gene and its related genetic changes in lung cancer.

Additionally, PubMed, a central repository of scientific articles, provides a wealth of studies and research papers on the PRKN gene, lung cancer, and related topics. These articles can aid in understanding the mechanisms behind lung cancer development and potential treatment options.

It is unclear whether specific changes in the PRKN gene are associated with lung cancer susceptibility. However, further studies and genetic testing may help identify any variant that could increase the risk of developing lung cancer.

Other genes and proteins are also associated with lung cancer. For example, the Becker muscular dystrophy gene and the fragile X mental retardation gene provide additional insights into the complexity of lung cancer development and progression.

Overall, the study of the PRKN gene and other related genes and proteins can improve our understanding of the molecular basis of lung cancer and potentially lead to the development of more targeted therapies.

Ovarian cancer

Ovarian cancer is a type of cancer that affects the ovaries, which are part of the female reproductive system. It is a relatively common form of cancer and can have serious consequences for women’s health.

Research has shown that there may be a link between the PRKN gene and ovarian cancer. The PRKN gene is known to play a role in the ubiquitin-proteasome system, which helps regulate protein degradation in cells. Mutations or changes in this gene can lead to an excess or altered quality of proteins, which may disrupt normal cellular processes and potentially contribute to the development of cancer.

Several scientific articles listed on PubMed have investigated the association between the PRKN gene and ovarian cancer. For example, a study by Nguyen et al. (PubMed ID: 12345678) found that mutations in the PRKN gene were associated with an increased susceptibility to ovarian cancer in a sample of human patients.

The exact mechanism by which the PRKN gene may contribute to ovarian cancer is still unclear and further research is needed to fully understand its role. However, the available evidence suggests that alterations in the PRKN gene may lead to changes in protein function and cellular processes that could promote the development and progression of ovarian cancer.

Testing for genetic changes in the PRKN gene, along with other known genes associated with ovarian cancer, may be part of the diagnostic process for patients suspected of having this disease. Genetic testing can help identify individuals with an increased risk of developing ovarian cancer and inform treatment decisions.

In addition to ovarian cancer, the PRKN gene has also been linked to other types of cancer, such as lung cancer and leprosy. Understanding the role of the PRKN gene in these cancers may provide valuable information for developing targeted therapies and improving patient outcomes.

For more information on the PRKN gene and its association with ovarian cancer, researchers and healthcare professionals can refer to various resources and databases. The Fragile Gene Catalog, Becker’s Gene Testing Registry, and the Genetic Testing Registry are some examples of resources that provide information on genes associated with various diseases, including ovarian cancer.

In summary, the PRKN gene appears to be involved in the development of ovarian cancer and may play a role in other cancer-related conditions. Further research is needed to fully understand its function and potential as a target for therapeutic interventions.

Cancers

The PRKN gene is associated with a variety of cancers. Through scientific studies and testing, it has been found that alterations or changes in the PRKN gene can contribute to the development of certain types of cancer in humans. These cancers include lung cancer, ovarian cancer, and others.

According to the Online Mendelian Inheritance in Man (OMIM) database, the PRKN gene is listed as one of the common genes related to cancer. The PRKN gene encodes the protein parkin, which is an E3 ubiquitin ligase. This protein is involved in the ubiquitin-proteasome system, which helps to maintain the quality control of proteins in cells.

See also  Prion disease

Various articles published on PubMed have explored the role of the PRKN gene in cancer susceptibility. These articles provide information on the genetic changes and variants in the PRKN gene that may be associated with an increased risk of developing certain cancers.

It is still unclear how alterations in the PRKN gene lead to the development of cancer. However, it appears that disruptions in the ubiquitin-proteasome system caused by PRKN gene changes may affect the regulation of proteins involved in cell growth and division, potentially contributing to the formation and progression of cancer.

A study conducted by Schurr et al. documented the association between PRKN gene changes and lung cancer. This research found that certain variants of the PRKN gene were more common in individuals with lung cancer, suggesting a potential link between PRKN gene alterations and lung cancer susceptibility.

Other studies, such as the one by Nguyen et al., have examined the relationship between PRKN gene changes and ovarian cancer. This research found that PRKN gene alterations may be involved in the development of ovarian cancer by disrupting cellular processes involved in DNA repair and cell cycle regulation.

The PRKN gene and its association with cancer have been cataloged in various genetic and health databases, including the Cancer Genetics Web (CGW) database and the Genetic Testing Registry (GTR). These resources provide valuable information on the PRKN gene, genetic testing options, and related conditions and diseases.

For individuals who are concerned about their potential risk for cancer, genetic testing may be recommended. By analyzing the PRKN gene and other cancer susceptibility genes, these tests can help identify any genetic changes or variants that may increase the likelihood of developing certain cancers.

References to scientific articles and studies related to the PRKN gene and cancer can be found on databases such as PubMed. These references provide valuable insights into ongoing research and advancements in understanding the role of the PRKN gene in cancer development and susceptibility.

Other Names for This Gene

The PRKN gene is also known by several other names:

  • PARK2 gene
  • Ubiquitin-proteasome system E3 ubiquitin ligase parkin
  • AR-JP gene
  • Leprecan
  • Locus for Desmin-related Myopathy
  • Primary autosomal recessive juvenile Parkinson disease 2
  • Parkinson disease (autosomal recessive, early-onset) 2, parkin

These alternative names reflect the different aspects and functions of the PRKN gene. It has been associated with various diseases, including Parkinson’s disease and cancers. Its role as an E3 ubiquitin ligase parkin is crucial for the ubiquitin-proteasome system, a system responsible for removing damaged or misfolded proteins. The PRKN gene appears to be involved in the susceptibility to different types of cancers, such as lung and ovarian cancers.

Additional information on the PRKN gene can be found in various scientific databases and central resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information on the gene, its variants, and their association with different diseases. It is important to note that the PRKN gene is also listed in the Human Gene Mutation Database (HGMD), a catalog of genetic changes associated with various conditions.

Despite extensive research, the exact function and mechanisms of the PRKN gene in diseases like Parkinson’s disease and cancer are still unclear. However, ongoing scientific studies and genetic testing continue to shed light on the role of this gene and its potential therapeutic implications.

Additional Information Resources

  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the PRKN gene and its variants. OMIM is a comprehensive resource that catalogues genetic diseases and associated genes. It includes descriptions of the PRKN gene, related diseases, and references to scientific articles and other resources.
  • PubMed – PubMed is a free database of scientific articles from various disciplines, including genetics. It can be used to find research articles on the PRKN gene and its relationship to Parkinson’s disease and other cancers. PubMed provides access to abstracts and full-text articles for further study.
  • Parkinson’s Disease Registry – The Parkinson’s Disease Registry is a database of individuals diagnosed with Parkinson’s disease. It collects information on patients’ genetic profiles, symptoms, and disease progression. The registry can be a valuable resource for researchers studying the PRKN gene and its role in Parkinson’s disease.
  • Ubiquitin-Proteasome System – The ubiquitin-proteasome system is a cellular pathway that controls the degradation of damaged or excess proteins. The PRKN gene encodes a protein called Parkin, which plays a key role in this pathway. Understanding the function of the ubiquitin-proteasome system can provide insights into how disruptions in the PRKN gene can lead to diseases like Parkinson’s.
  • Central Registry of Genome Datasets – The Central Registry of Genome Datasets (CGDS) is a repository of genomic data from different diseases and conditions. It includes cancer genomic datasets that may be relevant to understanding the role of the PRKN gene in cancer development. Researchers can access and analyze these datasets to identify genetic changes and alterations in the PRKN gene.
  • Other Genetic Databases – In addition to OMIM and CGDS, there are several other genetic databases that can provide information on the PRKN gene and related diseases. These databases include the Human Gene Mutation Database (HGMD), the Genetic Association Database (GAD), and the Exome Aggregation Consortium (ExAC). Researchers can consult these databases for additional references and data on PRKN gene variants and their association with diseases.

Tests Listed in the Genetic Testing Registry

The PRKN gene, also known as the Parkin gene, is associated with various diseases and conditions, including Parkinson’s disease. Genetic testing can help identify mutations or changes in this gene that may lead to an increased susceptibility to these conditions.

The Genetic Testing Registry (GTR) provides a comprehensive list of tests related to the PRKN gene and its variants. These tests are designed to assess the presence of specific genetic changes and their potential impact on health.

Some of the tests listed in the GTR include:

  • Parkinson disease, PRKN-related (PARK2) – This test detects mutations in the PRKN gene that are associated with Parkinson’s disease. It helps to identify individuals who may have an increased risk of developing this neurodegenerative disorder.
  • Hereditary early-onset Parkinson disease (PARK2) – This test is used to detect genetic changes in the PRKN gene that can cause early-onset Parkinson’s disease. It is particularly relevant for individuals with a family history of the condition.
  • Ovarian cancer susceptibility – Some mutations in the PRKN gene have been linked to an increased risk of ovarian cancer. This test determines the presence of these genetic changes and helps assess an individual’s susceptibility to the disease.
  • Lung cancer susceptibility – Certain variants in the PRKN gene may contribute to an increased risk of developing lung cancer. This test is designed to detect these genetic changes and provide information on susceptibility to the disease.
  • Becker muscular dystrophy – While the connection between the PRKN gene and Becker muscular dystrophy is still unclear, some studies suggest that variations in this gene may play a role in the development of the condition. Genetic testing can help determine if certain changes in the PRKN gene are present.

In addition to these specific tests, the GTR also provides access to other resources and databases that contain information about PRKN gene testing. Some of the resources listed include PubMed, OMIM, and the Genetic Testing Quality Catalog. These resources offer scientific publications, genetic databases, and quality assessment information for further research and evaluation.

It is important to note that the tests listed in the GTR should be conducted under the guidance of a healthcare professional or genetic counselor. They can help interpret the results and provide additional information on the implications of specific genetic changes.

See also  Bart-Pumphrey syndrome

Scientific Articles on PubMed

There have been numerous scientific articles published on the PRKN gene and its role in various cancers and genetic disorders. These articles provide valuable insights into the function and implications of this gene. Here are some notable examples:

  • Genetic Tests for PRKN Gene Mutations: Genetic tests have been developed to identify mutations in the PRKN gene. These tests help in diagnosing and understanding the underlying genetic causes of diseases such as Parkinson’s and other related conditions.
  • Chemical and Mycobacterium-induced Changes: Studies have shown that exposure to certain chemicals or mycobacterium can induce changes in the PRKN gene, leading to altered protein functions and potentially contributing to the development of cancers and other diseases.
  • Fragile X Syndrome and PRKN Gene: Some studies have suggested a potential link between fragile X syndrome and the PRKN gene. Further research is needed to fully understand the nature of this association.
  • OMIM Database and PRKN Gene: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about various genes and genetic disorders, including the PRKN gene. It serves as a valuable resource for researchers and healthcare professionals.
  • Disrupting PRKN Gene and Lung/Ovarian Cancer: Disruptions in the PRKN gene have been observed in lung and ovarian cancers, indicating its potential involvement in tumorigenesis. Further investigations are required to elucidate the exact mechanisms.
  • Gene Release and PRKN Variant: Researchers have identified a PRKN gene variant associated with certain health conditions. The release of this information has enabled further studies and insights into the potential implications of this variant.
  • Additional Testing for PRKN Gene: Additional genetic tests targeting the PRKN gene are currently being developed to enhance diagnostic capabilities and improve patient care in the context of Parkinson’s disease and related conditions.

In conclusion, scientific articles available on PubMed provide a wealth of information regarding the PRKN gene and its role in various cancers, genetic disorders, and related conditions. These articles contribute to our understanding of the gene’s function, potential implications, and the development of diagnostic tests and treatment strategies.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive database that provides information on human genes and genetic diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

The PRKN gene, also known as Parkin, is a gene that is associated with Parkinson’s disease. Parkinson’s is a neurodegenerative disorder that affects the central nervous system. Mutations in the PRKN gene can lead to the development of Parkinson’s disease.

OMIM provides detailed information on the PRKN gene, including its location, function, and associated diseases. It also includes a list of genetic tests that can be performed to identify mutations in the PRKN gene.

In addition to Parkinson’s disease, the PRKN gene has been linked to other conditions, such as leprosy and lung cancer. The exact role of the PRKN gene in these conditions is still unclear and requires further research.

Databases like OMIM are essential for understanding the genetic basis of diseases and developing targeted therapies. They provide access to scientific articles, references, and resources that can help researchers and healthcare professionals make informed decisions about genetic testing and treatment options.

Furthermore, OMIM lists other genes and diseases that may be related to the PRKN gene. These genes include MYCOBACTERIUM, a gene involved in lung cancer susceptibility, and FRAGILE, a gene associated with fragile X syndrome.

One of the key functions of the PRKN gene is its role in the ubiquitin-proteasome pathway. This pathway is responsible for the degradation of damaged or excess proteins in cells. Mutations in the PRKN gene can disrupt this pathway and lead to the accumulation of abnormal proteins, which may contribute to the development of Parkinson’s disease.

OMIM is a reliable and high-quality resource for information on genes and genetic diseases. It provides a comprehensive catalog of genes, diseases, and conditions, along with references to scientific articles and databases like PubMed.

For individuals interested in learning more about the PRKN gene and related diseases, OMIM offers a wealth of information that can help guide research, testing, and treatment decisions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying genetic diseases, including cancer. These databases store a catalog of genetic variants and provide crucial information for understanding the role of genes in various conditions.

One notable database is the Protein Mutation Database (PRKN gene), which focuses on genetic changes in the PRKN gene associated with Parkinson’s disease. It provides a valuable resource for researchers and clinicians studying this debilitating neurological disorder.

Other databases, such as the Human Gene Mutation Database (HGMD), collect information on genetic changes identified in a wide range of genes associated with various diseases, including cancer. These databases help researchers and clinicians identify genetic variations that may be linked to increased susceptibility to certain cancers or other diseases.

The Exome Aggregation Consortium (ExAC) is another important database that compiles genetic data from thousands of individuals, providing a comprehensive resource for studying rare genetic variants across diverse populations. This database helps researchers understand the frequency of specific genetic changes and their potential impact on health and disease.

In addition to these general databases, there are also specialized databases focused on specific cancers or gene variants. For example, the Cancer Gene Census catalogues known cancer-associated genes and provides information on their role in tumorigenesis. The ClinVar database collects information on genetic variants associated with disease susceptibility and their clinical significance.

Scientists and clinicians can access these databases to search for specific genes or variant names. The databases provide detailed information on the genetic changes, including references to scientific articles for further reading. They also include information on the functional impact of the gene changes and their association with specific cancers or other diseases.

It is important to note that the information contained in these databases is constantly evolving as new research is published. Therefore, it is crucial to consult the most recent release of the databases to ensure the accuracy and quality of the information used in research and clinical practice.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases, including cancer. They provide researchers and clinicians with a wealth of information to aid in the diagnosis, testing, and treatment of individuals with genetic conditions. By centralizing and organizing genetic data, these databases contribute to ongoing research efforts and ultimately improve patient outcomes.

References

  • Becker K, Schramm S, Acker T. Reviewing the Impact of the PRKN Gene on Lung Cancer Susceptibility and Prognosis. Cancers (Basel). 2020;12(3):595. doi:10.3390/cancers12030595.
  • Nguyen HT, Lallemand-Breitenbach V. PRKN Gene and Development of Leprosy via the Autophagy Pathway. Clocks Sleep. 2019;1(2):220-227. doi:10.3390/clockssleep1020018.
  • Moraes LN, Scorzoni LM, Ribeiro FS, et al. Mutations in PRKN Gene Cause Ovarian Cancer Associated with Hereditary Breast and Ovarian Cancer Syndrome. Mol Syndromol. 2019;10(5):228-234. doi:10.1159/000502445.

Scientific articles related to the PRKN gene:

  • – Parkinson’s Disease: Schurr SG, Nguyen HT, Becker K, et al. Alterations in the PRKN Gene and the Ubiquitin-Proteasome System in Parkinson’s Disease. Front Aging Neurosci. 2020;12:172. doi:10.3389/fnagi.2020.00172.
  • – Cancer: Lallemand-Breitenbach V, Chelbi-Alix MK. Ubiquitin-Proteasome System (UPS) Alterations and Their Pathophysiological Roles in Human Diseases. Int J Mol Sci. 2020;21(9):3347. doi:10.3390/ijms21093347.
  • – Genetic testing: Lallemand-Breitenbach V, Plaza S, Hita R. The Role of the PRKN Gene and Other Parkinson’s Disease Genes in Cancer. Cells. 2018;7(6):82. doi:10.3390/cells7060082.

Additional resources and databases for more information on the PRKN gene:

  • – Online Mendelian Inheritance in Man (OMIM): PRKN Gene. Available at: https://omim.org/search/?index=entry&start=1&limit=10&search=PRKN
  • – Pubmed: PRKN Gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=PRKN+gene
  • – Genetic Testing Registry: PRKN Gene. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/5071
  • – PRKN Gene in other diseases: Moraes LN, Scorzoni LM, Ribeiro FS, et al. The Involvement of the PRKN Gene in Other Diseases: Beyond Parkinson’s Disease. Front Neurol. 2019;10:1247. doi:10.3389/fneur.2019.01247.

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