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The SURF1 gene is associated with a group of inherited disorders known as Charcot-Marie-Tooth disease. It has been extensively studied and documented in scientific articles available on databases such as PubMed and MedlinePlus. Changes or variants in this gene are known to be the cause of complex syndromes and other related conditions.

This gene has been identified as one of the many genes responsible for Charcot-Marie-Tooth disease and other genetic diseases. Testing for variants in the SURF1 gene can provide additional information for diagnosis and treatment of these conditions. There are various resources available for genetic testing, including registries and catalogs that list the genes and variants associated with these diseases.

Research on the SURF1 gene has revealed its role in oxidative phosphorylation and the production of ATP in cells. Enzyme deficiencies related to the SURF1 gene have been shown to result in oxidative stress and Leigh syndrome, a severe neurodegenerative disease that often leads to death.

OMIM is a comprehensive database that provides detailed information on the SURF1 gene, including its function, variants, and associated diseases. It also provides links to other scientific articles and resources for further reading. MedlinePlus is another valuable resource for information on the SURF1 gene, as it provides reliable and easy-to-understand information on genes, genetic testing, and related health conditions.

In conclusion, the SURF1 gene plays a crucial role in various genetic diseases and conditions. Its function in oxidative phosphorylation and ATP production in cells is essential for the overall health and well-being of individuals. Understanding the SURF1 gene and its variants can provide valuable insights into diagnosis, treatment, and prevention of related diseases.

Genetic changes can contribute to the development of various health conditions. These changes occur in specific genes and can have a significant impact on an individual’s health and well-being.

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In the scientific community, databases and resources are available to study and catalog genetic changes associated with different health conditions. Some of the well-known resources for these genetic changes include:

  • The Genetic Testing Registry (GTR): A comprehensive database that provides information about genetic tests and the conditions related to specific genes.
  • Cytochrome P450 Database: Contains information on genes involved in drug metabolism and their variants.
  • OMIM (Online Mendelian Inheritance in Man): An extensive collection of genetic information related to human diseases.
  • PubMed: A database of scientific articles that provides references for various genetic changes and the associated health conditions.

Genetic changes can result in the development of genetic syndromes, complex diseases, and various other health conditions. Some of the health conditions related to genetic changes include:

  • Charcot-Marie-Tooth disease: A genetic disorder that affects the peripheral nerves and leads to muscle weakness and loss of sensation.
  • Leigh syndrome: A rare genetic disorder that affects the central nervous system and can result in developmental delay, movement disorders, and respiratory problems.
  • Oxidative phosphorylation deficiency: Genetic changes in the genes involved in oxidative phosphorylation can lead to mitochondrial dysfunction, resulting in various health issues.
  • Surfeit 1 gene changes: Genetic changes in the SURF1 gene can cause a severe form of mitochondrial disease known as Leigh syndrome or surfeit to death.

Genetic testing is often utilized to identify specific genetic changes associated with various health conditions. These tests can help in diagnosing and managing these conditions more effectively.

It is essential to consult with healthcare professionals and genetic counselors for further information and guidance regarding genetic changes and related health conditions. Additional resources, such as MedlinePlus, can provide reliable information for patients and their families.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a genetic disorder that affects the peripheral nerves, causing progressive weakness and wasting of the muscles. It is named after the three physicians who first described the condition: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is caused by changes in various genes. The most common types of CMT are classified as CMT1, CMT2, and CMTX, which are associated with mutations in different genes. Additional genes related to CMT have been discovered through genetic testing.

The SURF1 gene, which codes for a protein involved in the assembly of mitochondria and the production of energy for cells, has been found to be associated with a rare form of CMT called Leigh syndrome. Mutations in the SURF1 gene lead to a deficiency in an enzyme called cytochrome c oxidase, resulting in oxidative damage and death of cells in tissues throughout the body.

There are several resources available for more information on the genetic basis of CMT and related diseases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, genetic conditions, and related articles. The Genetic Testing Registry (GTR) catalogues genetic tests and associated information. PubMed and MEDLINEplus are scientific databases that provide references and articles on genetic diseases.

Testing for variants in the SURF1 gene can be performed to confirm a diagnosis of Leigh syndrome or other related conditions. These tests may involve sequencing the gene or looking for specific changes or variants in the gene.

In addition to genetic testing, other diagnostic tests such as nerve conduction studies and electromyography may be performed to evaluate muscle and nerve function. These tests can help to confirm a diagnosis of CMT and determine the specific subtype of the disease.

Managing CMT involves a multidisciplinary approach, including physical therapy, occupational therapy, and orthopedic interventions. There is currently no cure for CMT, but symptom management and supportive care can help improve quality of life for individuals with the disease.

See also  PKP2 gene

For more information on Charcot-Marie-Tooth disease and related conditions, individuals can refer to the Charcot-Marie-Tooth Association (CMTA), which provides resources, support, and advocacy for individuals and families affected by CMT.

Cytochrome c oxidase deficiency

Cytochrome c oxidase deficiency is a metabolic disorder characterized by impaired oxidative phosphorylation. It is caused by mutations in the SURF1 gene, which is important for the proper function of the enzyme cytochrome c oxidase. Cytochrome c oxidase is a protein complex that is essential for the final step of the mitochondrial respiratory chain, where it catalyzes the transfer of electrons from cytochrome c to molecular oxygen, resulting in the production of water.

In individuals with cytochrome c oxidase deficiency, the function of the enzyme is impaired, leading to a decrease in the production of adenosine triphosphate (ATP), the main energy source for the cells. This deficiency can affect various tissues and organs, including the brain, heart, muscles, and liver.

Cytochrome c oxidase deficiency can present with a wide range of symptoms, depending on the severity and the tissues affected. Some individuals may experience muscle weakness, exercise intolerance, developmental delay, or intellectual disability. In more severe cases, the deficiency can lead to life-threatening complications, including cardiac and respiratory failure.

Diagnosis of cytochrome c oxidase deficiency can be confirmed through genetic testing for mutations in the SURF1 gene. Other tests, such as muscle biopsy and enzyme activity assays, can also be performed to assess the function of cytochrome c oxidase in cells and tissues.

Management of cytochrome c oxidase deficiency includes symptomatic treatment to alleviate the symptoms and prevent complications. Supportive care may include physical and occupational therapy, speech therapy, and educational support for individuals with intellectual disability.

For more information on cytochrome c oxidase deficiency, you can refer to the following resources:

These resources provide comprehensive and scientific information on the disease, including genetic changes, protein and enzyme functions, diagnostic tests, and management strategies. They also list other related diseases and conditions, such as Charcot-Marie-Tooth syndrome and Leigh syndrome, which may have overlapping features with cytochrome c oxidase deficiency.

Additionally, scientific articles and references can be found on PubMed and other related databases. These articles may provide more in-depth information on the disease, its genetic variants, changes in protein structure and function, and potential therapeutic options.

Leigh syndrome

Leigh syndrome is a genetic disorder that affects the central nervous system. It is characterized by progressive neurodegeneration leading to severe neurological symptoms and eventually death. The condition is named after Denis Archibald Leigh, the British neuropathologist who first described it in 1951.

The exact cause of Leigh syndrome is still not fully understood, but it is believed to be related to a deficiency in the SURF1 gene. This gene is responsible for producing a protein called SURF1, which is involved in the assembly of cytochrome c oxidase, an enzyme that plays a critical role in oxidative phosphorylation and energy production in cells.

Leigh syndrome is one of several conditions classified as a mitochondrial disease, meaning that it affects the mitochondria, the cellular structures responsible for generating energy. Mitochondrial diseases can have a wide range of symptoms and can affect any organ or tissue in the body, but they often have a profound effect on the central nervous system.

There are several scientific articles and resources available for further information on Leigh syndrome. Some of the resources include:

  • MedlinePlus: a health information website with articles and resources on various diseases, including Leigh syndrome. It provides information on symptoms, causes, tests, and treatments.
  • PubMed: a database of scientific articles and research papers. Searching for “Leigh syndrome” in PubMed can provide additional scientific articles on the condition.
  • OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic disorders. It contains information on the SURF1 gene and related genetic variants.
  • GeneReviews: a resource that provides comprehensive, peer-reviewed information on genetic diseases. It includes detailed information on Leigh syndrome, including clinical features, management, and genetic testing.
  • Leigh syndrome registry: a registry that collects information on individuals with Leigh syndrome for research purposes. It aims to facilitate collaboration among researchers and advance our understanding of the disease.

Genetic testing is often used to confirm a diagnosis of Leigh syndrome and to identify the specific genetic changes associated with the condition. This can help determine the prognosis, guide treatment decisions, and provide valuable information for genetic counseling.

It is important to note that Leigh syndrome can be associated with other genetic diseases, such as Charcot-Marie-Tooth syndrome and other mitochondrial disorders. The exact relationship between these conditions is still being studied.

In summary, Leigh syndrome is a genetic disorder that affects the central nervous system. It is caused by a deficiency in the SURF1 gene, which leads to abnormalities in cytochrome c oxidase and oxidative phosphorylation. There are various resources available for further information on Leigh syndrome, including scientific articles, genetic databases, and patient registries.

Other Names for This Gene

The SURF1 gene is also known by other names:

  • Surfeit 1 homolog (Saccharomyces cerevisiae)
  • Cytochrome c oxidase assembly protein SURF1
  • Surfeit locus protein 1 homolog

These are alternative names for the SURF1 gene that are used in scientific articles, genetic databases, and resources related to genetic testing and health conditions. The gene is involved in the assembly of cytochrome c oxidase, an enzyme complex that is essential for the oxidative metabolism of cells. Mutations in the SURF1 gene can result in Leigh syndrome, a severe neurological disorder that can lead to death. Changes in this gene have also been associated with other diseases, such as Charcot-Marie-Tooth disease. Additional information on the SURF1 gene can be found in the OMIM gene catalog and other genetic databases, as well as in scientific articles and references listed in PubMed. Genetic testing for mutations in the SURF1 gene may be offered for individuals with symptoms or a family history of Leigh syndrome or other related conditions.

Additional Information Resources

  • Genetic Testing: Tests for changes in the SURF1 gene can be done to confirm a diagnosis of SURF1-related Leigh syndrome and other related conditions. These tests are available in specialized laboratories and can be requested through a healthcare provider.
  • Genetic Testing Catalog: A comprehensive catalog of genetic tests is available on the website of the National Institutes of Health (NIH). This catalog provides information on the specific genes and conditions tested for each test, as well as the availability and cost of the test.
  • MedlinePlus: MedlinePlus is a trusted source of health information provided by the National Library of Medicine. It provides information on SURF1-related Leigh syndrome and other related conditions, including symptoms, causes, diagnosis, treatment, and prognosis.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes and genetic diseases. It provides detailed information on the SURF1 gene and its role in Leigh syndrome and related conditions.
  • PubMed: PubMed is a database of scientific articles and publications. It provides a wealth of information on the SURF1 gene, including research studies, case reports, and reviews.
  • Genetic Health Information: The Genetic and Rare Diseases Information Center (GARD) provides information on SURF1-related Leigh syndrome and other genetic diseases. It includes a description of the disease, its symptoms, causes, inheritance, and treatment options.
  • Registry: The SURF1 Deficiency Registry is a database that collects and stores clinical and genetic information from individuals with SURF1-related Leigh syndrome and other related conditions. It is a valuable resource for researchers and healthcare providers.
  • Additional Genes: In addition to the SURF1 gene, other genes are also associated with Leigh syndrome and related conditions. These genes include cytochrome c oxidase subunit c (COX10) and surfeit 1 (SURF1) gene. Testing for changes in these genes may be necessary for a complete diagnosis.
  • Oxidative Phosphorylation: The SURF1 gene is involved in oxidative phosphorylation, a process that generates energy in cells. Changes in the SURF1 gene can impair this process, leading to the symptoms of Leigh syndrome and related conditions.
  • Cytochrome C Oxidase: The SURF1 gene is responsible for producing a protein called cytochrome c oxidase subunit 1 (COX1). This protein is a component of cytochrome c oxidase, which is an enzyme involved in the oxidative phosphorylation process.
  • Tissues and Cells: Changes in the SURF1 gene can affect the function of various tissues and cells in the body. The most severely affected tissues include the brain, muscles, and nerves.
  • Complex I Deficiency: SURF1-related Leigh syndrome is characterized by a deficiency of complex I of the mitochondrial respiratory chain. Complex I is a large protein complex involved in the generation of energy in cells.
  • Leigh Syndrome: Leigh syndrome is a rare neurodegenerative disorder characterized by progressive loss of mental and movement abilities. It is caused by genetic changes that impair the function of mitochondria, the energy-producing structures in cells.
See also  Nail-patella syndrome

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in assessing an individual’s health and identifying potential genetic disorders. The Genetic Testing Registry (GTR) is a valuable resource providing information on various genetic tests associated with different diseases and conditions.

The GTR contains a vast collection of genetic tests, ranging from the identification of changes in specific genes to testing for specific disease variants. It catalogs tests related to a wide range of conditions, including Charcot-Marie-Tooth disease, Leigh syndrome, and Surfeit 1 deficiency.

Genetic testing is performed on various tissues and cells, such as blood, saliva, or skin samples, to analyze the presence of specific genetic changes or variants. The registry provides comprehensive information on the tests available for each gene or disease, including test names, associated articles and scientific references, and additional testing resources.

The Genetic Testing Registry also serves as a hub for genetic testing information related to the SURF1 gene. SURF1 is responsible for encoding a protein involved in oxidative phosphorylation, a process that generates energy for cells by transferring protons across the mitochondrial membrane. Deficiency in SURF1 can lead to mitochondrial dysfunction and the onset of diseases like Leigh syndrome.

The GTR helps individuals and healthcare professionals access information about available genetic tests for SURF1 deficiency and related conditions. It provides an extensive list of tests, including detailed descriptions of the tests’ methodologies and associated articles from renowned scientific publications, such as PubMed and MedlinePlus.

The repository of information in the Genetic Testing Registry allows users to explore the different testing options for SURF1 and related genetic disorders. It serves as a valuable resource for medical professionals seeking to diagnose and manage patients with these conditions effectively.

By providing reliable and up-to-date genetic testing information, the Genetic Testing Registry helps individuals and healthcare professionals make informed decisions regarding their health, leading to better treatments and improved outcomes for individuals with genetic diseases.

Common Genetic Testing Databases
Database Description
OMIM The Online Mendelian Inheritance in Man database contains information about inherited genetic conditions and the genes associated with them.
Genetic Testing Registry A database compiled by the National Institutes of Health that lists genetic tests and the labs that perform them.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the SURF1 gene. Here, you can explore a catalog of articles that discuss various aspects of the gene, including its role in Charcot-Marie-Tooth syndrome and other genetic diseases.

The gene, officially known as cytochrome c oxidase assembly factor SURF1, plays a crucial role in the function of cells and tissues. Mutations in the SURF1 gene can lead to a deficiency in the enzyme cytochrome c oxidase, which is involved in oxidative phosphorylation.

Researchers have conducted numerous studies to understand the changes in SURF1 and its effects on health. Through PubMed, you can find articles that discuss genetic testing, protein deficiency, and the relationship between SURF1 and other genes or genetic diseases.

In addition to scientific articles, PubMed also provides access to other resources. You can use the database to find related articles, references, and resources from the Online Mendelian Inheritance in Man (OMIM) catalog. You can also explore information from the Genetic Testing Registry and MedlinePlus, which provides information on various conditions and genetic diseases.

Some articles focus on specific conditions and diseases associated with SURF1 gene mutations. For example, Leigh syndrome, a severe genetic disorder affecting the central nervous system, is often related to SURF1 gene variants. Research articles discuss the role of SURF1 in Leigh syndrome and the impact of different mutations on disease progression.

See also  SERPINA6 gene

Studies have also investigated the function of the SURF1 protein and its complex interactions with other proteins and enzymes. Articles describe how SURF1 participates in the assembly of cytochrome c oxidase, a key component of the respiratory chain that transfers electrons and protons. The function of SURF1 is crucial for the proper functioning of mitochondria and cellular energy production.

In summary, PubMed provides a comprehensive collection of scientific articles on the SURF1 gene. These articles cover a wide range of topics, including genetic testing, protein deficiency, related diseases, and the function of SURF1 in cellular processes. By exploring the articles, researchers and healthcare professionals can gain a deeper understanding of the gene and its implications for human health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic diseases and the associated genes. This catalog includes a wide range of conditions, including Charcot-Marie-Tooth disease, Leigh syndrome, and other related conditions.

OMIM provides detailed information on the genetic changes, protein variants, and enzyme deficiencies that are associated with these diseases. It also includes information on the testing methods available for each disease, including genetic testing and other diagnostic tests.

The catalog includes references to scientific articles and other resources, such as PubMed and MedlinePlus, where users can find additional information on the diseases and genes of interest. It also provides links to related databases and registries for further exploration.

One example of a disease included in the catalog is Charcot-Marie-Tooth disease, a genetic disorder that affects the peripheral nerves and can result in changes in muscle strength and sensation. This disease is caused by mutations in the SURF1 gene, which is involved in the functioning of the cytochrome c oxidase enzyme complex in mitochondria.

Leigh syndrome is another condition covered in the catalog. It is a rare genetic disorder that affects the central nervous system and can lead to severe neurological problems and even death. The disease is associated with defects in the oxidative phosphorylation system, specifically in the assembly of the ATP synthase complex.

The catalog provides information on the genes and proteins involved in these diseases, as well as their roles in cellular processes and tissues. For example, in the case of Leigh syndrome, mutations in the SURF1 gene lead to a deficiency in the cytochrome c oxidase enzyme, which is responsible for the transfer of electrons and protons in the oxidative phosphorylation system.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides comprehensive information on the genes, diseases, and testing options available, as well as references to scientific articles and related databases for further exploration.

Gene and Variant Databases

In the study of the SURF1 gene and its variants, many resources and databases play a crucial role in providing valuable information. These databases serve as repositories of knowledge and serve as references for researchers and healthcare professionals.

Online Resources:

  • MedlinePlus: A trusted resource for scientific and health-related information
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog for genes and genetic conditions
  • GeneTests: A registry of genetic tests and related information

Gene Databases:

  • NCBI Gene: Provides information on genes, their functions, and associated diseases
  • ClinVar: A database of genetic variations and their clinical significance
  • PubMed: A collection of scientific articles on genetics and related fields

Variant Databases:

  • ClinVar: Contains information on genetic variants and their association with diseases
  • gnomAD: A database of genetic variants from diverse populations
  • LOVD (Leiden Open Variation Database): Focuses on variants in the SURF1 gene

These databases provide access to a vast amount of information on genes, variants, diseases, and related conditions. Researchers and healthcare professionals can utilize these resources to identify genetic changes, perform genetic testing, and explore the functions of specific genes and proteins in various cellular processes.

Additionally, these databases enable researchers to study the relationship between the SURF1 gene and other genetic conditions such as Charcot-Marie-Tooth syndrome and Leigh syndrome, both of which are affected by changes in cytochrome c oxidase.

Overall, the availability of these resources and databases greatly enhances our understanding of the SURF1 gene, its variants, and their implications in disease. They serve as valuable tools for research, testing, and the dissemination of scientific knowledge.

References

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