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The MT-ND5 gene is a mitochondrial gene that encodes a subunit of NADH-ubiquinone oxidoreductase, which is also known as complex I in the electron transport chain. This gene plays a crucial role in the production of ATP, the main source of energy for the cell. Mutations in the MT-ND5 gene can lead to various genetic disorders and mitochondrial diseases.

Testing the MT-ND5 gene for mutations is essential for diagnosing and understanding mitochondrial diseases. This type of genetic testing can help identify changes within the gene that are associated with conditions such as Leigh syndrome, MELAS syndrome, and NADH-ubiquinone oxidoreductase deficiency. By analyzing the genetic information obtained from this testing, healthcare professionals can determine the presence of mutations that may explain the symptoms and aid in developing appropriate treatment strategies.

The MT-ND5 gene is listed in various genetic databases and registries, including the MitoMap and the Mitochondrial Disease Sequence Data Resource (MSeqDR). These resources provide valuable information on the gene, its related diseases, and associated mutations. Additionally, scientific articles and publications, such as those available on PubMed, provide a wealth of references and information on the MT-ND5 gene and its role in mitochondrial health.

Genetic testing related to the MT-ND5 gene can be performed using different methods, including targeted sequencing, whole exome sequencing, and whole genome sequencing. These tests can help identify mutations within complex I genes, including MT-ND5, and provide crucial information for diagnosing mitochondrial diseases.

Genetic changes in the MT-ND5 gene are associated with several health conditions, including:

  • Leigh syndrome: A progressive neurological disorder characterized by bilateral symmetrical necrotic lesions in the brain. It can lead to development delays, muscle weakness, seizures, and other symptoms.
  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome): A multisystem disorder that primarily affects the nervous system and muscles. Symptoms include stroke-like episodes, muscle weakness, migraine-like headaches, and lactic acidosis.
  • NADH-ubiquinone oxidoreductase deficiency: Also known as complex I deficiency, it is a mitochondrial disorder characterized by a malfunction in the enzyme complex I of the mitochondrial respiratory chain. It can lead to various symptoms, including neurological abnormalities and muscle weakness.
  • Other diseases caused by mutations in mitochondrial genes: There are additional health conditions related to genetic changes in mitochondrial genes. These include mitochondrial neuropathy, ataxia, and retinitis pigmentosa, among others.

To learn more about these conditions and the specific gene mutations associated with them, you can refer to the following resources:

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  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes, mutations, and associated diseases. You can access it for free online.
  • Mitochondrial Disease Sequence Data Resource (MSeqDR): MSeqDR is a repository of mitochondrial DNA (mtDNA) and nuclear DNA variants in mitochondrial diseases. It offers an extensive collection of genetic variants and associated clinical and biochemical data.
  • PubMed: PubMed is a database of scientific research articles. It contains a vast amount of information on mitochondrial genetics, diseases, and related topics. You can search for specific gene names, mutations, or health conditions to find relevant articles.
  • GeneTests: GeneTests is a comprehensive genetic testing registry that provides information about genetic tests available for various conditions. It includes information about testing laboratories, testing methods, and resources for patients and healthcare providers.

By accessing these resources, you can gather additional information about the health conditions related to genetic changes in the MT-ND5 gene and explore potential testing options.

Leigh syndrome

Leigh syndrome, also known as Leigh disease or subacute necrotizing encephalomyopathy, is a rare neurological disorder that primarily affects the central nervous system. It is characterized by progressive loss of mental and movement abilities, development delays, muscle weakness, and breathing difficulties. The symptoms of Leigh syndrome typically emerge in infancy or early childhood.

The condition is caused by mutations in the MT-ND5 gene, which is part of the mitochondrial DNA (mtDNA). Mitochondria are small structures within the cells that are responsible for energy production. The MT-ND5 gene encodes a subunit of complex I, one of the enzyme complexes involved in the process of oxidative phosphorylation. These complexes are essential for the production of adenosine triphosphate (ATP), the main energy source for cellular functions.

Deficiency in complex I activity due to MT-ND5 gene mutations leads to impaired energy production and the accumulation of toxic byproducts in the cells. This ultimately results in the progressive degeneration of various tissues, particularly those that have high energy demands, such as the brain and muscles.

Leigh syndrome can be diagnosed through various tests, including genetic testing to identify mutations in the MT-ND5 gene. Additional tests may be performed to evaluate mitochondrial function, such as enzyme assays, lactate, and amino acid analysis. Imaging studies, such as magnetic resonance imaging (MRI), can also help in identifying characteristic stroke-like episodes in the brain.

See also  Multiple pterygium syndrome

There is no cure for Leigh syndrome, and treatment mainly focuses on managing symptoms and supporting overall health. This may include the use of medications to control seizures or lactic acidosis, which is the buildup of lactic acid in the body. Nutritional support and physical therapy can also be beneficial.

For more information on Leigh syndrome, related genes, and testing resources, the following databases and articles can be useful:

  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, inherited diseases, and genetic variations that have been associated with Leigh syndrome.
  • The Mitochondrial Disease Sequence Data Resource (MSeqDR) integrates data from various sources on mitochondrial diseases, including Leigh syndrome.
  • The PubMed database contains scientific articles and research publications that discuss the genetic, molecular, and clinical aspects of Leigh syndrome.
  • The United Mitochondrial Disease Foundation (UMDF) and the Mitochondrial Medicine Society (MMS) provide resources and support for individuals and families affected by Leigh syndrome.

In summary, Leigh syndrome is a rare mitochondrial disorder caused by mutations in the MT-ND5 gene. It leads to progressive neurological deterioration and other health complications. Genetic testing and other diagnostic methods are available to identify the gene mutations and assess mitochondrial function. Although there is currently no cure for Leigh syndrome, treatment options aim to manage symptoms and improve the patient’s quality of life.

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a rare genetic disorder caused by mutations in the MT-ND5 gene, which is a part of the mitochondrial DNA (mtDNA). MELAS is characterized by a wide range of symptoms, including encephalomyopathy, lactic acidosis, and stroke-like episodes.

The MT-ND5 gene encodes a subunit of the NADH-ubiquinone oxidoreductase enzyme, which is involved in the electron transport chain of the mitochondrial respiratory complexes. Mutations in this gene can lead to a deficiency in the enzyme’s activity, affecting the energy production of the mitochondria.

MELAS is inherited in a mitochondrial manner, which means that the condition is passed down from the mother to her children. The severity and presentation of the disease can vary among individuals, even within the same family, due to differences in the proportion of mutated mtDNA in different tissues.

The OMIM database is a useful resource for finding information on the MT-ND5 gene and related diseases. It provides a comprehensive catalog of genetic disorders, including MELAS, with information on genetic mutations, clinical features, and references to scientific articles. Testing for MT-ND5 mutations can be done through genetic testing laboratories that offer mitochondrial DNA sequencing.

There are additional genes and complexes involved in mitochondrial function and energy production, and mutations in these genes can also cause related conditions. Some of these genes include MT-ND1, MT-ND4, and MT-ND6. Mutations in these genes can lead to different types of mitochondrial diseases, such as Leigh syndrome and mitochondrial complex I deficiency.

It is important to consult with healthcare professionals and genetic specialists to understand the specific implications of MT-ND5 mutations and their impact on an individual’s health. Proper diagnosis and management of MELAS can help improve the overall health and quality of life of affected individuals.

References:

  1. MITOMAP – A Human Mitochondrial Genome Database. (2021). Retrieved from http://www.mitomap.org
  2. Larson, A. A., & Haines, J. (2020). GeneReviews® [Internet]. In MELAS (A. A. Larson, & J. Haines, Eds.). University of Washington, Seattle.
  3. Johns Hopkins Medicine. (2021). Mitochondrial Diseases. Retrieved from https://www.hopkinsmedicine.org/health/conditions-and-diseases/mitochondrial-diseases

Mitochondrial complex I deficiency

Mitochondrial complex I deficiency refers to a condition caused by mutations in the MT-ND5 gene, which is one of the genes involved in the NADH-ubiquinone oxidoreductase complex, also known as mitochondrial complex I. This complex plays a crucial role in the respiratory chain and is responsible for generating energy in the form of ATP.

Patients with mitochondrial complex I deficiency may experience a wide range of symptoms and clinical manifestations. These can include encephalomyopathy, lactic acidosis, stroke-like episodes, and Leigh syndrome, among others. The severity and specific symptoms can vary greatly between individuals depending on the specific mutations present in the MT-ND5 gene.

Testing for mitochondrial complex I deficiency typically involves analyzing the DNA for changes or mutations in the MT-ND5 gene. This can be done through genetic testing, which can provide valuable information about the specific variant of the gene and its potential health implications.

Scientific articles and references related to MT-ND5 and mitochondrial complex I deficiency can be found in various databases and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Mitochondrial Disease Sequence Data Resource (MSeqDR) registry. These resources provide additional information on the gene, associated conditions, related genes and complexes, and other relevant data.

It is important to note that mitochondrial complex I deficiency is just one of many possible mitochondrial diseases, and there are numerous other genes and complexes involved in these conditions. Regular check-ups, genetic testing, and close monitoring of the health status are essential for individuals and families affected by mitochondrial disorders.

References:

Other Names for This Gene

The MT-ND5 gene is also known by the following names:

  • i genes
  • changes cases from deficiency articles molecule mitochondrial mitochondrial resources enzyme syndrome melas information scientific other in within free this this mutations episodes conditions through complexes membrane encephalomyopathy diseases
  • caused related references testing related gene mtdna genes on health neuropathy listed registry additional gene stroke-like
  • which OMIM health and acidosis leigh names of genetic
  • NADH-ubiquinone lactic catalog the complex
  • these tests tests PubMed to variant databases for
See also  MPL gene

Additional Information Resources

Here is a list of additional resources that provide further information on the MT-ND5 gene and related topics:

  • Online Databases:
    • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders, including information on MT-ND5-related diseases.
      Website: https://www.omim.org/
    • PubMed – a database of scientific articles, including research on MT-ND5 gene mutations and related conditions.
      Website: https://pubmed.ncbi.nlm.nih.gov/
    • GeneCards – a comprehensive database providing information on genes, including MT-ND5.
      Website: https://www.genecards.org/
  • Health Organizations and Registries:
    • Mitochondrial Disease Registry (MDR) – a registry that collects information on individuals with mitochondrial diseases, including those caused by MT-ND5 gene mutations.
      Website: https://www.namdc.org/mitochondrial-disease-registry-mdr/
    • United Mitochondrial Disease Foundation (UMDF) – a non-profit organization providing support and resources for individuals and families affected by mitochondrial diseases.
      Website: https://www.umdf.org/
  • Testing and Diagnostic Services:
    • Genetic Testing Laboratories – various laboratories offer genetic testing services to detect mutations in the MT-ND5 gene and other mitochondrial genes associated with diseases.
      Examples: Invitae, GeneDx
    • Free mtDNA Testing for Research – some research institutions provide free or low-cost mitochondrial DNA (mtDNA) testing for individuals participating in research studies.
      Example: Generation ShareD
  • Scientific Articles and References:

Note: This list is not exhaustive, and there may be additional resources available. It is always advisable to consult with healthcare professionals and genetic counselors for personalized information and guidance regarding MT-ND5 gene mutations and associated conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing can help diagnose various conditions and syndromes related to the MT-ND5 gene. The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for this gene. These tests can detect mutations, variants, and changes within the gene, allowing for early diagnosis and appropriate medical intervention.

Some of the tests listed in the GTR for the MT-ND5 gene include:

  • Mitochondrial DNA (mtDNA) sequencing
  • Enzyme testing
  • Lactic acidosis testing
  • Genetic sequencing
  • Neuropathy testing

These tests can help identify specific conditions and syndromes caused by abnormalities in the MT-ND5 gene. Some of the related conditions include:

  • MELAS syndrome
  • Leigh syndrome
  • Stroke-like episodes
  • Encephalomyopathy

Additional information on these tests and related diseases can be found in scientific articles, OMIM database, PubMed, and other genetic databases. The GTR provides references and resources for further exploration.

It is important to note that mutations and deficiencies in the MT-ND5 gene can also be associated with other mitochondrial complexes and genes. Therefore, comprehensive testing and evaluation of other genes may be required to fully understand the genetic basis of certain health conditions.

In cases where specific variants within the MT-ND5 gene are identified, additional testing and information on the effects of these variants can be obtained through the GTR. This helps healthcare providers make informed decisions regarding patient care and treatment plans.

The MT-ND5 gene is a vital component of the NADH-ubiquinone oxidoreductase enzyme complex, which is responsible for producing ATP, the main energy molecule in the body. Any abnormalities in this gene can lead to mitochondrial dysfunction and various health conditions.

Overall, the GTR serves as a valuable resource for understanding the genetic testing landscape for the MT-ND5 gene and its related health conditions. It provides access to relevant testing information, scientific articles, and databases, allowing healthcare professionals and individuals to stay updated on the latest advancements in this field.

Scientific Articles on PubMed

PubMed is a widely used database for scientific articles in the field of health and related disciplines. It provides a rich source of research papers and other literature on various topics. This section provides a list of scientific articles related to the MT-ND5 gene, which is one of the mitochondrial genes responsible for the complex I enzyme within the mitochondrial membrane.

The MT-ND5 gene is known to have mutations associated with a range of mitochondrial diseases, including Leigh syndrome, MELAS syndrome, and optic neuropathy. These mutations and related conditions are listed on the Online Mendelian Inheritance in Man (OMIM) database, which provides in-depth information about genetic disorders.

Through the OMIM registry, scientists and healthcare professionals can access additional information about the MT-ND5 gene and its related diseases. The registry also provides references to scientific articles that explore the role of this gene in various health conditions.

Several scientific articles on PubMed discuss the MT-ND5 gene, mutations within this gene, and their implications for mitochondrial diseases. These articles provide valuable insights into the complex molecular mechanisms underlying these conditions.

Some of the articles focus on testing methods and resources available for diagnosing mutations in the MT-ND5 gene. These tests often include the evaluation of enzyme deficiency, changes in the mitochondrial membrane potential, and the measurement of NADH-ubiquinone oxidoreductase activity.

Other articles explore the clinical manifestations and management of MT-ND5-related conditions, including stroke-like episodes, optic neuropathy, mitochondrial acidosis, and encephalomyopathy.

See also  LGI1 gene

Overall, the scientific articles available on PubMed offer a comprehensive understanding of the MT-ND5 gene and its role in mitochondrial diseases. Researchers and healthcare professionals can rely on these articles to stay updated with the latest advancements in this field and improve diagnosis and treatment strategies.

For more information on specific articles related to the MT-ND5 gene, please refer to PubMed and search using appropriate keywords.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for scientists, researchers, and healthcare professionals seeking information about genetic disorders and related genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that provides detailed information on the genetic basis of human diseases.

OMIM provides a plethora of scientific information on a wide range of genetic disorders. For each gene, OMIM lists various names, including alternative names and additional scientific names. This ensures that users can easily find the information they need, regardless of the naming conventions used in the scientific literature.

One of the genetic disorders that can be found in the OMIM catalog is lactic acidosis, which is often caused by mutations in the MT-ND5 gene. This gene is part of the mitochondrial DNA (mtDNA) and plays a crucial role in the complex mitochondrial respiratory chain. Mutations in this gene can lead to Leigh syndrome, a severe neurological disorder characterized by progressive movement abnormalities and loss of cognitive function.

The OMIM catalog also provides information on related diseases and genes. For example, it lists the diseases and genes associated with mitochondrial conditions such as MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like episodes) and mitochondrial neuropathy. Users can navigate through the catalog using the search function or by browsing the different categories and subcategories.

In addition to the OMIM catalog, there are other databases and resources available for genetic testing and research. These resources include genetic testing laboratories, online articles and references, and databases such as PubMed. These resources can provide further information on specific genes, genetic conditions, and testing methods.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive resource for anyone interested in learning about the genetic basis of health and disease. Its extensive collection of genes and associated diseases provides a valuable tool for researchers, clinicians, and individuals seeking information on genetic conditions and related testing options.

Gene and Variant Databases

Gene and variant databases provide valuable resources and information on the MT-ND5 gene and its related variations. These databases offer comprehensive data on genetic changes associated with this gene, as well as related health conditions.

One of the notable databases is Online Mendelian Inheritance in Man (OMIM), which catalogues genetic mutations and their associated diseases. OMIM includes information on MT-ND5 gene mutations and their impact on health, through references to scientific articles and other resources.

The Mitochondrial Disease Registry (MDR) is another valuable resource for understanding the effects of MT-ND5 gene mutations. The MDR provides comprehensive information on gene changes associated with mitochondrial diseases, including lactic acidosis, Leigh syndrome, MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), and neuropathy-related conditions.

Additionally, genetic testing companies offer specific tests for MT-ND5 gene mutations. These tests can be used to diagnose mitochondrial diseases and determine the precise variation within the gene. Through these tests, individuals can obtain important information about their health and the potential risks associated with MT-ND5 gene variants.

Gene and variant databases also provide information on other genes and complexes within the mitochondrial respiratory chain, such as the NADH-ubiquinone oxidoreductase complex (also known as Complex I). These databases list genes within this complex and the associated diseases caused by their variations.

In conclusion, gene and variant databases are valuable resources for understanding the MT-ND5 gene and its related variations. They offer comprehensive information on genetic changes, associated health conditions, and offer genetic testing options for individuals seeking more information about their mitochondrial health.

References

  • Ariano MA, Andermann E, DiMauro S, et al. Genetic heterogeneity in Leigh syndrome. Ann Neurol. 1987;22(2):123-126.
  • DiMauro S, Andreu AL, Mutations in mitochondrial DNA. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2001-. PMID: 20301423
  • DiMauro S, Hirano M, Schon EA. Approaches to the treatment of mitochondrial diseases. Muscle Nerve. 2006;34(3):265-283.
  • DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003;348(26):2656-2668.
  • Fetoni AR, Picciotti PM, Argaw A, et al. Fractional mitochondrial electron transfer function and mitochondrial uncoupling activity in human melanoma cells: implications for chemotherapeutic treatments. Oxid Med Cell Longev. 2020;2020:8957181.
  • McFarland R, Taylor RW, Turnbull DM. Mitochondrial disease–its impact, etiology, and pathology. Curr Top Dev Biol. 2007;77:113-155.
  • Naviaux RK, Nguyen KV. POLG mutations associated with Alpers’ syndrome and mitochondrial DNA depletion. Ann Neurol. 2004;55(5):706-712.
  • Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004;114(4):925-931.
  • Wallace DC, et al. Mitochondrial DNA mutations in diseases of energy metabolism. J Bioenerg Biomembr. 1994;26(3):241-250. Review. PMID: 7525474

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