The MT-ND4L gene is a part of the catalog of human genes and genetic disorders. It also goes by the names NADH-ubiquinone oxidoreductase chain 4L and NADH dehydrogenase subunit 4L. This gene is related to the optic nerve and optic cells. According to OMIM, a registry of human genes and genetic conditions, mutations in the MT-ND4L gene are associated with Leber hereditary optic neuropathy, a genetic disorder that causes vision loss.

The MT-ND4L gene provides instructions for making a protein that is a part of NADH dehydrogenase, one of the enzyme complexes in mitochondria, the energy-producing structures within cells. Changes in this gene can lead to the deficiency in the activity of NADH dehydrogenase, which affects the mitochondria’s ability to generate energy. Deficiency in the function of this enzyme complex can result in mitochondrial diseases and neuropathy, among other conditions.

Various databases and scientific resources, such as PubMed and the SeattleSNPs, provide additional information on the MT-ND4L gene. These resources can be used for genetic testing, finding more information, and researching related articles and references on mitochondrial diseases and genetic changes in the MT-ND4L gene.

Genetic changes in the MT-ND4L gene can lead to various health conditions, particularly those related to mitochondrial dysfunction. Mitochondria are responsible for producing energy within cells. Mutations in the MT-ND4L gene can affect the function of the NADH-ubiquinone oxidoreductase complex, also known as Complex I, which is involved in the production of ATP.

One well-known condition associated with MT-ND4L gene mutations is Leber hereditary optic neuropathy (LHON). LHON is characterized by a sudden loss of central vision due to the death of cells in the optic nerve. Mutations in the MT-ND4L gene can impair Complex I function in the optic nerve, leading to this vision loss.

Further information on health conditions related to genetic changes in the MT-ND4L gene can be found through various resources such as PubMed, Seattle Children’s Hospital, and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide additional scientific articles, genetic testing information, and other resources for diseases related to mitochondrial deficiency and Complex I dysfunction.

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The OMIM database provides a catalog of gene names, genetic disorders, and associated genes. It also lists references to scientific articles and other sources of information on these conditions. Genetic testing can be performed to identify mutations in the MT-ND4L gene and to provide further information on the specific variant.

In addition to LHON, other health conditions associated with MT-ND4L gene mutations include optic atrophy, hereditary motor and sensory neuropathy, and other mitochondrial disorders. The exact impact of these genetic changes on health may vary depending on the specific mutation and other factors.

In conclusion, genetic changes in the MT-ND4L gene can result in various health conditions, particularly those related to mitochondrial dysfunction. Resources such as PubMed, Seattle Children’s Hospital, and the OMIM database can provide additional information on these conditions, including genetic testing options and scientific articles.

Leber hereditary optic neuropathy

Leber hereditary optic neuropathy (LHON) is a hereditary optic neuropathy caused by mutations in the MT-ND4L gene. It is also known by other names such as Leber optic atrophy, Leber’s disease, and Leber’s optic neuropathy.

LHON is a complex disease that leads to a deficiency in the NADH dehydrogenase subunit 4L (ND4L) enzyme. This deficiency affects the function of mitochondrially encoded NADH dehydrogenase complexes and leads to the degeneration of optic nerve cells.

The hereditary nature of LHON means that it can be passed down through families. It is primarily caused by mutations in the MT-ND4L gene.

There are various resources available for genetic testing and additional information on LHON. The OMIM database provides catalog information on the gene, including variant and disease-related information. The GeneTests and Genetic Testing Registry provide information on available genetic tests for LHON and other mitochondrial diseases.

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Scientific articles and references related to LHON and the MT-ND4L gene can be found in PubMed. The Seattle Mitochondrial Disease registry also provides information on LHON and other mitochondrial conditions.

Changes in the MT-ND4L gene can result in defects in the mitochondrial membrane and impair the function of NADH dehydrogenase complexes. These changes can lead to optic neuropathy and associated vision loss.

The MT-ND4L gene is one of several genes that encode subunits of the mitochondrial NADH dehydrogenase complexes. Mutations in these genes can result in various forms of mitochondrial diseases, including LHON.

Overall, the MT-ND4L gene plays a crucial role in the function of mitochondria and the health of optic nerve cells. Understanding the genetic and molecular mechanisms underlying LHON can provide insights into potential therapeutic strategies for this condition.

Mitochondrial complex I deficiency

Mitochondrial complex I deficiency is a genetic disease characterized by a malfunction in the NADH:ubiquinone oxidoreductase enzyme complex, also known as complex I. This complex plays a key role in the electron transport chain, which is essential for generating energy in the form of ATP.

This deficiency can lead to a range of conditions, including optic neuropathy, leber hereditary optic neuropathy, and other optic diseases. It can also be associated with various other diseases and syndromes.

To diagnose mitochondrial complex I deficiency, additional tests such as NADH tetrazolium reductase (NADH-TR) staining and enzyme activity assays are performed. Genetic testing can also provide information on specific gene mutations related to complex I deficiency.

There are several genes involved in the production of complex I, including the MT-ND4L gene. Mutations in these genes can disrupt the normal function of complex I, leading to deficiency and associated health conditions.

Scientific databases and resources, such as PubMed, OMIM, and genetic testing databases, provide information on the genes and mutations related to mitochondrial complex I deficiency. This information can help researchers and healthcare professionals better understand the disease and develop effective diagnostic and treatment strategies.

References to related articles and scientific publications can be found in these databases, as well as in the scientific literature. The Mitochondrial Disease Registry is also a valuable resource for information on mitochondrial complex I deficiency and other mitochondrial diseases.

In summary, mitochondrial complex I deficiency is a genetic disorder that affects the function of complex I, leading to a range of health conditions. Genetic testing and scientific databases provide essential information on the genes and mutations associated with this deficiency, aiding in diagnosis and treatment efforts.

Other Names for This Gene

  • MT-ND4L gene: This gene is also known as “mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L”.
  • NADH-ubiquinone oxidoreductase subunit 4L: This gene is a subunit of the NADH-ubiquinone oxidoreductase complex, also known as complex I.
  • NADH dehydrogenase, subunit 4L: This gene encodes a protein that is part of the NADH dehydrogenase enzyme complex, which is involved in cellular respiration.
  • MTND4L: This gene is often abbreviated as “MTND4L”.
  • Leber hereditary optic neuropathy variant: Mutations in the MT-ND4L gene are associated with a variant of Leber hereditary optic neuropathy, a mitochondrial disorder that causes progressive loss of vision.
  • Other names: The MT-ND4L gene may have other names depending on the context, such as “NADH:ubiquinone oxidoreductase subunit 4L, mitochondrial” or “NADH dehydrogenase 4L, mitochondrial”.

Additional information on this gene, including related diseases and conditions, can be found through various online resources. These resources include scientific databases, genetic testing registries, and health information websites. Some databases and registries that provide information on the MT-ND4L gene and related conditions include:

  1. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders, and it provides detailed information on the MT-ND4L gene and associated diseases.
  2. GeneReviews: GeneReviews is a resource that provides up-to-date information on genetic conditions, including those caused by MT-ND4L gene mutations.
  3. PubMed: PubMed is a database of scientific articles, and it can be used to find research papers and studies on the MT-ND4L gene and its role in mitochondrial diseases.
  4. Seattle Genetics Testing Registry: This registry provides information on genetic tests for various conditions, including those related to the MT-ND4L gene.

It is important to consult these resources and other reliable sources for accurate and comprehensive information on the MT-ND4L gene and its implications in health and disease.

Additional Information Resources

The MT-ND4L gene, also known as the NADH dehydrogenase 4L (ND4L) gene, is one of the genes associated with Leber hereditary optic neuropathy (LHON). LHON is a mitochondrial disease that affects the optic nerve, causing vision loss. Mutations in the MT-ND4L gene can lead to a deficiency in the NADH-ubiquinone oxidoreductase complex, also known as complex I, which is a mitochondrial enzyme involved in energy production.

See also  GLA gene

If you are interested in learning more about the MT-ND4L gene and related genes, there are several resources available to you. The following databases and websites provide additional information, scientific articles, testing services, and other resources related to mitochondrial diseases, LHON, and the MT-ND4L gene.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on the MT-ND4L gene, including its associated diseases, inheritance patterns, and mutant variants. You can access this resource at https://www.omim.org/.
  • Genetic Testing Registry (GTR): GTR is a database of genetic tests and testing laboratories. It provides information on available genetic tests for LHON and other mitochondrial diseases, including information on the genes tested, laboratories offering the tests, and clinical validity. You can access this resource at https://www.ncbi.nlm.nih.gov/gtr/.
  • PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information on the MT-ND4L gene, LHON, and other related topics. You can search for scientific articles on these topics using keywords such as “MT-ND4L gene,” “Leber hereditary optic neuropathy,” or “mitochondrial diseases.” You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • Seattle Children’s Research Institute – Mitochondrial Disease Research and Clinical Testing: The research and clinical testing program at the Seattle Children’s Research Institute provides comprehensive diagnostic testing for mitochondrial diseases, including LHON. They offer genetic testing, enzymatic testing, and other specialized tests to identify mutations and biochemical changes associated with these diseases. You can find more information about their services at https://www.seattlechildrens.org/research/centers-programs/mitochondrial-therapeutics-and-research/.

These resources should provide you with additional information and references to further explore the MT-ND4L gene, LHON, and other mitochondrial diseases. Whether you are interested in understanding the genetic basis of these conditions, seeking testing services, or accessing scientific publications, these resources can help you navigate the complex world of mitochondrial genetics and optic neuropathy.

Tests Listed in the Genetic Testing Registry

The MT-ND4L gene is responsible for encoding the enzyme NADH-ubiquinone oxidoreductase chain 4L (also known as Complex I subunit 4L) which is a part of mitochondrial respiratory chain Complex I. This gene provides instructions for making a protein that is involved in generating adenosine triphosphate (ATP), the cell’s main energy source.

Testing for mutations in the MT-ND4L gene can be used in the diagnosis of various conditions, particularly those related to optic neuropathy. Mutations in this gene have been found to be associated with optic atrophy, a condition characterized by the degeneration of the optic nerve and progressive loss of vision. These mutations can lead to deficiencies in Complex I, resulting in impaired ATP production and mitochondrial dysfunction in optic nerve cells.

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and related resources. It provides information on genes, gene variants, and genetic conditions, including those associated with the MT-ND4L gene. The GTR includes references to scientific articles from PubMed, as well as information from other databases such as OMIM (Online Mendelian Inheritance in Man) and the NADH-Ubiquinone Oxidoreductase subunit ND4L (MTND4L) gene entry in the Seattle Mitochondrial Disease Panel Catalog.

Genetic testing can be performed on individuals who have symptoms or a family history of diseases related to MT-ND4L gene mutations. These tests can help in determining the presence of genetic changes, which can aid in the diagnosis and management of hereditary optic neuropathies and other mitochondrial disorders.

Additional information on genetic testing for MT-ND4L gene-related conditions can be obtained from healthcare providers, genetic counselors, and resources such as the GTR. It is important to seek proper medical guidance and interpretation of test results for accurate diagnosis and appropriate care.

Scientific Articles on PubMed

The MT-ND4L gene is a mitochondrial gene associated with various diseases and conditions. Deficiency or changes in this gene can lead to a wide range of health problems. PubMed provides a comprehensive list of scientific articles related to this gene, offering valuable information for researchers and healthcare professionals.

Through PubMed, scientists and healthcare professionals can access articles on genetic testing, mitochondrial diseases, optic neuropathy, and other conditions associated with the MT-ND4L gene. The articles listed on PubMed provide in-depth information on the genetic variant of this gene, its role in membrane complexes, and its connection to NADH-ubiquinone oxidoreductase.

The genetic information available on PubMed can be used to better understand the causes and mechanisms of diseases related to the MT-ND4L gene. Researchers can find additional information on the gene variant, its changes in different diseases, and the testing methods available for its detection.

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PubMed also offers resources such as the HUGO Gene Nomenclature Committee (HGNC) and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide further information on the gene, its functions, and its association with different diseases.

Furthermore, PubMed provides references to other scientific articles, allowing researchers to explore related studies and findings. These references can serve as a valuable source of information for further research on the MT-ND4L gene.

In summary, PubMed is a valuable resource for accessing scientific articles related to the MT-ND4L gene. It provides information on genetic testing, conditions associated with the gene, and the role of the gene in various diseases. Researchers and healthcare professionals can utilize PubMed to stay updated on the latest research in this field and improve their understanding of mitochondrial diseases and related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases, including information on the MT-ND4L gene.

The MT-ND4L gene, also known as NADH dehydrogenase 4L, is a mitochondrial gene that plays a crucial role in the production of energy in cells. It encodes a subunit of the NADH-ubiquinone oxidoreductase (Complex I) enzyme complex, which is involved in the electron transport chain and oxidative phosphorylation.

Various genetic changes or mutations in the MT-ND4L gene can lead to mitochondrial diseases, particularly hereditary optic neuropathies. These conditions can cause progressive vision loss and damage to the optic nerve.

In the OMIM catalog, the MT-ND4L gene is listed along with other genes associated with optic neuropathies and related diseases. The catalog provides scientific names, variant names, and additional information for each gene.

OMIM also includes references to scientific articles, databases, and resources for further information on the MT-ND4L gene and related conditions. These resources can be helpful for genetic testing, research, and understanding the underlying mechanisms of mitochondrial deficiency.

One such resource is the Seattle Mitochondrial Disease Registry, which collects and maintains clinical and genetic information on patients with mitochondrial diseases. This registry provides valuable data for research and offers testing services for mitochondrial gene mutations.

Overall, the OMIM catalog is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genes and diseases. It provides a comprehensive overview of genes like MT-ND4L and their associations with various diseases and conditions, helping to advance our understanding of genetics and improve human health.

Gene and Variant Databases

There are several gene and variant databases that provide information on the MT-ND4L gene and its associated variants. These databases serve as a registry for genetic tests conducted on mitochondrially encoded NADH-ubiquinone oxidoreductase chain 4L (MT-ND4L) gene mutations.

One such database is the Leber Optic Neuropathy Gene Variation (L-catalog) database, which lists the names and changes in the MT-ND4L gene associated with Leber hereditary optic neuropathy (LHON) and other related optic neuropathy diseases. This database provides information collected from scientific articles, PubMed, and other genetic databases, making it a comprehensive resource for gene and variant information.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides information on genetic disorders and their associated genes, including MT-ND4L mutations. OMIM includes information on the clinical features of diseases caused by MT-ND4L mutations, genetic testing options, and references to scientific articles.

The Seattle Mitochondrial Disease Center offers a comprehensive database of mitochondrial genes and their related disease phenotypes. This database provides additional resources for understanding the role of MT-ND4L and other mitochondrial genes in mitochondrial complex deficiency.

These databases serve as valuable resources for researchers, clinicians, and individuals seeking information on MT-ND4L gene mutations and associated diseases. They play a crucial role in advancing scientific knowledge, diagnosing genetic disorders, and improving the health outcomes of individuals with MT-ND4L gene mutations.

References