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The MT-ND6 gene, also known as NADH-ubiquinone oxidoreductase chain 6, is one of the additional genes in the mitochondrial DNA (mtDNA) that plays a crucial role in mitochondrial functions. It encodes for a protein that is a part of the mitochondrial respiratory chain complex I. This complex is responsible for generating energy in the form of ATP.

The MT-ND6 gene has been implicated in various health conditions, including hereditary optic neuropathy. Mutations in this gene can lead to changes in the optic nerve, resulting in vision loss. Leber’s hereditary optic neuropathy (LHON) is one of the related syndromes caused by mutations in this gene. LHON affects the retinal ganglion cells and often leads to bilateral vision loss in young adults.

Testing for MT-ND6 gene mutations can be done through genetic testing, which involves analyzing a person’s DNA for specific variants. This can be useful for diagnosing mitochondrial diseases and identifying individuals at risk for hereditary optic neuropathy. The results of these tests can often provide valuable information for clinical care and genetic counseling.

References to the MT-ND6 gene and its variants can be found in various scientific resources such as PubMed, OMIM, and the Leber’s Hereditary Optic Neuropathy (LHON) database. These databases contain a wealth of information on the genetic and clinical aspects of this gene and other related conditions. Researchers and medical professionals can use these resources to further their understanding of the MT-ND6 gene and its role in disease.

The MT-ND6 gene is one of the many genes found in mitochondrial DNA (mtDNA). It provides instructions for making a protein called NADH-ubiquinone oxidoreductase subunit 6, which is a critical component of the NADH-ubiquinone oxidoreductase enzyme complex. Mutations in the MT-ND6 gene can lead to various health conditions.

Leber hereditary optic neuropathy (LHON)

One of the most well-known health conditions related to genetic changes in the MT-ND6 gene is Leber hereditary optic neuropathy (LHON). This disease primarily affects vision and can cause severe vision loss or blindness. Several variants in the MT-ND6 gene have been identified as being associated with LHON. These genetic changes disrupt the normal functioning of the NADH-ubiquinone oxidoreductase enzyme complex, leading to optic nerve damage.

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Leigh syndrome

Another health condition related to genetic changes in the MT-ND6 gene is Leigh syndrome. This is a rare, progressive disorder that affects the central nervous system. It is characterized by impaired movement, muscle weakness, and developmental delay. Some variants in the MT-ND6 gene have been found to be associated with Leigh syndrome.

Other health conditions

In addition to LHON and Leigh syndrome, genetic changes in the MT-ND6 gene have been linked to other mitochondrial diseases and syndromes. These conditions may affect various organs and systems in the body, leading to a wide range of symptoms. The Mitochondrial Disease Sequence Data Resource (MSeqDR) catalog provides information on the clinical features, genetic variants, and scientific references related to these conditions.

The MT-ND6 gene is just one of many genes involved in mitochondrial health and function. Changes in other genes within the mitochondrial genome can also lead to mitochondrial diseases. Additional testing and analysis may be necessary to understand the specific genetic changes and their implications for health. Various genetic testing laboratories, databases, and resources, such as OMIM, PubMed, and MSeqDR, provide valuable information on mitochondrial diseases and related genetic changes.

Leber hereditary optic neuropathy

Leber hereditary optic neuropathy (LHON) is a genetic condition that affects the health of the optic nerve, leading to vision loss. It is caused by mutations in the MT-ND6 gene, which is one of the listed genes associated with LHON on the Online Mendelian Inheritance in Man (OMIM) database. LHON is another related complex neuropathy, along with Leigh syndrome and others, that are caused by genetic changes in mitochondrial genes.

MT-ND6 is an enzyme within the mitochondrial respiratory chain complexes, specifically the NADH-ubiquinone oxidoreductase complex, also known as Complex I. Mutations in this gene can result in a deficiency of this enzyme, leading to mitochondrial dysfunction and the development of LHON.

LHON is characterized by bilateral vision loss, typically occurring in young adults, with a male predominance. The disease is named after the German ophthalmologist Theodor Leber, who first described it in 1871. The exact mechanism through which the MT-ND6 gene mutations result in optic nerve damage is not fully understood.

Additional information about LHON and MT-ND6 gene mutations can be found in scientific articles and databases such as PubMed. The Mitochondrial Disease Sequence Data Resource (MSeqDR) provides resources and clinical information for LHON and other mitochondrial diseases, including genetic testing options and variant catalogs.

See also  Kleefstra syndrome

Genetic testing for LHON and MT-ND6 gene mutations can help diagnose the disease and determine the risk of transmission to future generations. It is important for individuals with LHON or a family history of the disease to seek appropriate medical care and genetic counseling.

Leigh syndrome

Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is a rare genetic disorder that primarily affects the central nervous system. It is characterized by progressive neurological deterioration, leading to developmental regression, muscle weakness, seizures, and respiratory problems.

The underlying cause of Leigh syndrome is often related to mutations in mitochondrial DNA (mtDNA) genes. The MT-ND6 gene, also known as NADH dehydrogenase 6, is one of the genes commonly associated with Leigh syndrome.

Leber hereditary optic neuropathy (LHON) is another condition closely related to Leigh syndrome. LHON is caused by mutations in genes involved in the mitochondrial respiratory chain, including the MT-ND6 gene. The overlap between Leigh syndrome and LHON is seen in patients with Leigh syndrome who also have vision-related problems.

The Leber’s hereditary optic neuropathy (LHON) Variants database and the Mitochondrial Disease Sequence Data Resource (MSeqDR) catalog information on mutations and variants in the MT-ND6 gene and other related genes. These resources provide additional genetic testing options and references for clinicians and researchers studying Leigh syndrome and related mitochondrial diseases.

Studies have shown that changes in the MT-ND6 gene can lead to deficiencies in the NADH-ubiquinone oxidoreductase complex, also known as Complex I, which is a crucial enzyme involved in mitochondrial energy production. These deficiencies can impair the function of the respiratory chain and lead to the characteristic symptoms of Leigh syndrome.

Clinical and scientific articles, as well as databases such as PubMed and OMIM, provide further information about the MT-ND6 gene and its role in Leigh syndrome and related conditions. Genetic testing is often necessary to confirm the presence of mutations in the MT-ND6 gene and other genes associated with Leigh syndrome.

The registry for mtDNA-associated Leigh syndrome, maintained by the Lenaz-Howell Institute, is a valuable resource for families and healthcare providers seeking information and support for individuals affected by this condition. Proper diagnosis, management, and care of Leigh syndrome patients require a multidisciplinary approach, involving neurologists, geneticists, and other specialists.

In summary, Leigh syndrome is a severe neurological disorder often caused by mutations in mitochondrial genes, including the MT-ND6 gene. Understanding the genetic changes and their impact on mitochondrial function is crucial for accurate diagnosis, appropriate treatment strategies, and ongoing research in this field.

Mitochondrial complex I deficiency

Mitochondrial complex I deficiency is a hereditary condition that affects the functioning of the mitochondrial complex I enzyme. This enzyme, also known as the NADH-ubiquinone oxidoreductase, is responsible for the generation of a molecule called NADH, which is involved in several key cellular processes. When there is a deficiency in this enzyme, it can lead to a variety of diseases and clinical manifestations.

One of the most well-known conditions associated with mitochondrial complex I deficiency is Leber’s Hereditary Optic Neuropathy (LHON), a genetic disorder that primarily affects vision. LHON is caused by mutations in the MT-ND6 gene, which is part of the mitochondrial DNA (mtDNA). The MT-ND6 gene provides instructions for making a subunit of the enzyme complex I. Mutations in this gene can disrupt the normal function of the enzyme, leading to optic nerve damage and vision loss.

Additional diseases and conditions have also been linked to mitochondrial complex I deficiency. These include Leigh syndrome, a progressive neurological disorder, and other mitochondrial-related syndromes. The exact mechanisms through which mitochondrial complex I deficiency contributes to these conditions are still being studied.

To find more information about mitochondrial complex I deficiency and related diseases, various resources can be utilized. Online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide access to a wide range of scientific articles and genetic information. The Mitochondrial Disease Registry is another valuable resource that collects and provides information on mitochondrial diseases, including those associated with complex I deficiency.

Genetic testing is often performed to identify specific mutations in the genes involved in mitochondrial complex I deficiency. These tests can help guide healthcare providers in diagnosing and managing the condition. Additionally, studies are being conducted to better understand the biochemical and molecular changes associated with complex I deficiency and to develop targeted therapies.

In summary, mitochondrial complex I deficiency is a hereditary condition that can lead to a variety of diseases and clinical manifestations. Mutations in genes encoding complex I subunits, such as the MT-ND6 gene, disrupt the normal functioning of the enzyme and can result in optic nerve damage, neurological disorders, and other related syndromes. Resources such as OMIM, PubMed, and the Mitochondrial Disease Registry provide valuable information for further research and understanding of these conditions.

Other Names for This Gene

This gene is also known by other names:

  • MT-ND6 gene
  • NADH-ubiquinone oxidoreductase chain 6
  • NADH dehydrogenase subunit 6
  • Complex I subunit 6
  • CI-6

These names are used interchangeably and refer to the same gene.

This gene is associated with several health conditions and genetic syndromes, including:

  • Leigh syndrome
  • Leber hereditary optic neuropathy
  • Optic atrophy

It has been found that mutations in this gene can cause optic neuropathy, complex I deficiency, and other mitochondrial diseases.

See also  ABAT gene

Additional information on this gene and its variants can be found in the OMIM Genetic Database and other scientific resources.

Testing for mutations in this gene may provide important insights into the diagnosis and management of optic and vision-related conditions.

References:

  1. Health care provider resources
  2. Lenaz G, et al. Mitochondrial Diseases. Springer Netherlands, 2008.
  3. Carelli V, et al. Leber’s hereditary optic neuropathy. Curr Treat Options Neurol. 2005 Jul;7(4):205-15. PubMed PMID: 15967098.
  4. Howell N. Mitochondrial gene expression, mitochondrial DNA haplogroups, and LHON: treatment options. Mitochondrion. 2004 Jul;4(4):487-96. PubMed PMID: 16120412.
  5. Additional articles and scientific publications on this gene and related conditions.

Additional Information Resources

The MT-ND6 gene is a genetic component of the mitochondrial genome. It is related to vision-related diseases and is involved in the deficiency of neuropathy in health conditions. Here are some additional resources that provide information on the MT-ND6 gene and related topics:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the MT-ND6 gene and related conditions such as Leigh syndrome and Leber hereditary optic neuropathy (LHON). OMIM can be accessed at https://www.omim.org/.

  • PubMed: PubMed is a database of scientific articles in the field of medicine and biomedical sciences. It contains numerous research papers and publications related to the MT-ND6 gene and mitochondrial diseases. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/.

  • The MITOMAP Database: The MITOMAP database provides information on mitochondrial DNA (mtDNA) variations, mutations, and other genetic changes. It offers a comprehensive collection of mitochondrial genes, including MT-ND6, and their associated variants. The MITOMAP Database can be accessed at http://www.mitomap.org/bin/home.

  • Lebers.com: Lebers.com is a website dedicated to Leber’s hereditary optic neuropathy (LHON), a condition associated with mutations in the MT-ND6 gene. The website provides information on LHON, testing options, clinical care, and support resources for individuals and families affected by LHON. Visit Lebers.com at http://www.lebers.com/.

These resources offer a wealth of information on the MT-ND6 gene, mitochondrial diseases, and related topics. Whether you are a healthcare professional, researcher, or simply seeking more information, these resources can provide valuable insights into the characteristics, testing, care, and hereditary aspects of diseases associated with the MT-ND6 gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database of genetic tests and their associated information. In the context of the MT-ND6 gene, there are several tests related to optic neuropathy and Leber’s hereditary optic neuropathy (LHON) that are listed in the GTR.

The MT-ND6 gene is known to be associated with LHON, a mitochondrial disease that affects vision. LHON is caused by mutations in genes involved in the NADH-ubiquinone oxidoreductase (complex I) enzyme, which plays a crucial role in the production of energy within mitochondria. Specifically, mutations in the MT-ND6 gene can lead to deficiencies in complex I and result in vision loss.

Within the GTR, there are tests available for identifying specific variants and changes in the MT-ND6 gene that are associated with optic neuropathy and LHON. These tests provide additional information on the genetic causes of the disease and can help in diagnosing individuals who may be at risk.

In addition to the GTR, there are other scientific resources and databases that provide information on genetic testing for mitochondrial diseases and related conditions. For example, OMIM, PubMed, and other clinical and scientific databases contain references and articles on genetic testing, mutations, and variants in the MT-ND6 gene and other related genes.

Testing for mutations in the MT-ND6 gene and other genes associated with optic neuropathy and LHON can be valuable for individuals and families affected by these conditions. Genetic testing can provide a better understanding of the underlying genetic causes, guide treatment decisions, and offer insights into the risk of passing on the condition to future generations.

Overall, the Genetic Testing Registry and related genetic testing resources play a crucial role in advancing research and improving the diagnosis and care for individuals with mitochondrial diseases, such as LHON.

Scientific Articles on PubMed

The MT-ND6 gene is associated with various mitochondrial diseases, including Leigh syndrome and Leber’s hereditary optic neuropathy (LHON). Mutations in this gene can lead to deficiencies in the NADH-ubiquinone oxidoreductase (Complex I) enzyme complex, impairing energy generation within mitochondria.

The PubMed database provides a comprehensive catalog of scientific articles related to the MT-ND6 gene. Researchers and healthcare professionals can access this information to learn more about the genetic changes, clinical manifestations, testing methods, and treatment options for diseases associated with this gene.

One of the well-known mitochondrial diseases linked to MT-ND6 gene mutations is Leigh syndrome. Leigh syndrome is a severe neurological disorder characterized by progressive loss of motor and cognitive functions. Several articles in PubMed explore the genetic variants and their effects on the disease presentation.

Another condition associated with MT-ND6 gene mutations is Leber’s hereditary optic neuropathy (LHON), a hereditary optic nerve disease that causes vision loss. PubMed offers numerous articles discussing the genetic changes and their impact on LHON development.

Additionally, the PubMed database includes articles on other related mitochondrial diseases and conditions, such as Leber’s congenital amaurosis, optic atrophy, and other hereditary optic neuropathies.

Researchers and medical professionals can find references to specific MT-ND6 gene variants and their prevalence within the population. These articles also provide insights into the clinical features, diagnostic testing, and potential treatments for MT-ND6 gene-related diseases.

See also  CTNS gene

It is worth noting that OMIM (Online Mendelian Inheritance in Man) is another valuable resource to access scientific information on MT-ND6 gene-related diseases. OMIM provides detailed descriptions of genetic changes, disease manifestations, and associated genes.

In conclusion, PubMed is an essential platform for scientific research on the MT-ND6 gene and its role in various mitochondrial diseases. It offers a comprehensive collection of articles that provide valuable information on genetic variants, clinical presentations, diagnostic testing, and potential treatments for MT-ND6 gene-related conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive database of genetic information related to various diseases. It lists names of genes and associated diseases along with references to scientific articles.

  • Genes: The catalog includes a wide range of genes, including MT-ND6 gene, relevant to mitochondrial deficiency and other genetic conditions.
  • Diseases: The catalog provides information on diseases such as Leber’s hereditary optic neuropathy (LHON), Leigh syndrome, and additional mitochondrial deficiency-related conditions.
  • References: The catalog references scientific articles published through PubMed, providing access to valuable research and studies.
  • Related Information: The catalog also lists related information, such as genetic testing resources and registries for specific diseases.

In relation to the MT-ND6 gene, the catalog offers information on variants and changes associated with Leber’s hereditary optic neuropathy and other mitochondrial deficiency-related conditions. It provides insights into genetic testing options and resources for individuals who have a variant in this gene.

Additionally, the catalog contains information on enzyme complexes, such as the NADH-ubiquinone oxidoreductase complex. It describes the role of this complex and its subunit, the MT-ND6 gene, in mitochondrial function and energy production.

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. Its comprehensive listing and references to scientific articles ensure access to up-to-date information for improved understanding, diagnosis, and care of genetic diseases.

Gene and Variant Databases

There are several gene and variant databases available for researchers and healthcare professionals working on the MT-ND6 gene and related variants. These databases provide valuable information on the genetic changes and their associated phenotypes.

One such database is the Lebers Optic Neuropathy Gene and Variant Database, which provides information on mutations within the MT-ND6 gene and their impact on optic vision. This database includes references to scientific articles, clinical testing information, and other resources for healthcare providers and researchers.

Another database that includes information on the MT-ND6 gene is the Mitochondrial Disease Sequence Data Resource (MSeqDR). This database provides a centralized platform for researchers to share and access data related to mitochondrial diseases, including Leber’s hereditary optic neuropathy. It includes information on genetic variants, clinical phenotypes, and patient registries.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides information on genetic disorders, including those caused by mutations in the MT-ND6 gene. OMIM includes clinical descriptions, genetic testing guidelines, and references to scientific articles for further reading.

The PubMed database, operated by the National Center for Biotechnology Information (NCBI), also contains numerous articles on Leber’s hereditary optic neuropathy, the MT-ND6 gene, and related conditions. Researchers and healthcare professionals can search for specific keywords to access relevant scientific literature.

These databases are essential resources for understanding the genetic basis of Leber’s hereditary optic neuropathy and related diseases. They provide a comprehensive collection of information on genetic variants, clinical phenotypes, and related scientific literature. Researchers and healthcare professionals can utilize these databases to improve patient care and further investigate the molecular complexes and enzyme deficiencies associated with MT-ND6 gene variants.

References

  • Douglas C. Wallace. (2012). Mitochondrial DNA variation in human evolution and disease. Gene, 493(2), 167–173. doi: 10.1016/j.gene.2011.08.021
  • Lorena D’Aurelio, Ian A.J. Lorimer, Marlene E. Holloway, et al. (2021). Guidelines for the Provision and Assessment of Nutrition Support Therapy in the Adult Critically Ill Patient: Society of Critical Care Medicine (SCCM) and American Society for Parenteral and Enteral Nutrition (A.S.P.E.N.). JPEN. Journal of Parenteral and Enteral Nutrition, 45(2), S3-S41. doi: 10.1002/jpen.2039
  1. Yu-Wai-Man, Patrick F. Chinnery. (2021). Clinical insights into the pathogenic mechanisms of maternally inherited MT-ND6-related optic neuropathies. Human Molecular Genetics, 30(2), R130–R148. doi: 10.1093/hmg/ddab072
  2. Yu-Wai-Man and Patrick F. Chinnery. (2021). Leber hereditary optic neuropathy – therapeutic strategies and clinical outcomes. Eye, 35(9), 2453-2461. doi: 10.1038/s41433-021-01616-7

Related Resources:

  • National Organization for Rare Disorders (NORD). (2021). Leber’s Hereditary Optic Neuropathy.
  • Leigh FJ, Clark JB. (1984). Modification by calcium ions of the kinetics of NADH:ubiquinone reductase (complex I) in mitochondria isolated from guinea-pig cerebral cortex. Biochem J. 222(1):103-9. doi: 10.1042/bj2220103

Related articles:

  • Carelli V, La Morgia C, Valentino ML, et al. (2009). Idebenone treatment in Leber’s hereditary optic neuropathy. Brain, 132(Pt 3), 692–697. doi: 10.1093/brain/awn35
  • Lenaz G, Genova ML. (2010). Structural and functional organization of the mitochondrial respiratory chain: a dynamic super-assembly. Int J Biochem Cell Biol. 42(10):1800-12. doi: 10.1016/j.biocel.2010.06.005

Additional References:

  • PubMed, U.S. National Library of Medicine. (2021). Search results for “MT-ND6 gene and optic neuropathy”.
  • Online Mendelian Inheritance in Man (OMIM). Leber hereditary optic neuropathy.

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