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The SUCLA2 gene is a gene associated with various health conditions and syndromes. It is listed in genetic databases as a gene that can cause diseases and is often used in genetic testing. This gene is specifically associated with succinate-CoA ligase deficiency, a condition that affects the succinate-CoA ligase enzyme responsible for the succinate cycle reactions in the body.

Deficiency or changes within the SUCLA2 gene can lead to an depletion of succinate-CoA ligase, causing various conditions and symptoms. These include Leigh syndrome, a severe neurological disorder characterized by changes in the brain and muscles. Other conditions associated with SUCLA2 gene deficiency include nucleoside depletion syndrome, which affects the brain and muscles, among other symptoms.

Scientific articles and studies suggest that mutations or variants in the SUCLA2 gene can play a role in the development of these conditions. Additional information on the SUCLA2 gene and related scientific research can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other genetic databases.

References:

– Online Mendelian Inheritance in Man (OMIM) database: [link]

– PubMed: [link]

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– Genetic databases and resources: [link]

Genetic changes in the SUCLA2 gene are associated with various health conditions. These changes can cause a deficiency in the enzyme succinyl-CoA ligase, which is essential for the proper function of the citric acid cycle.

People with SUCLA2 gene mutations may experience a range of symptoms and conditions, including:

  • Leigh Syndrome: This is a severe neurological disorder that primarily affects the brain. It is characterized by progressive loss of mental and movement abilities.
  • Succinyl-CoA deficiency: This condition leads to a deficiency of succinyl-CoA, an important molecule in the citric acid cycle. It can cause muscle weakness, developmental delay, and other symptoms.
  • Succinate-CoA ligase deficiency: This deficiency affects the function of succinate-CoA ligase, leading to impaired energy production. It can result in muscle weakness, developmental delay, and other symptoms.

Further information on these health conditions and related genetic changes can be found in scientific articles, databases, and resources. The Online Mendelian Inheritance in Man (OMIM) and PubMed are valuable sources for additional information and references.

Genetic testing is available to identify changes in the SUCLA2 gene and confirm a diagnosis. These tests can help healthcare professionals determine the appropriate course of treatment and management for individuals with SUCLA2 gene mutations.

A registry of individuals with SUCLA2 gene mutations can provide valuable information on the prevalence, symptoms, and treatment approaches for these conditions. This registry allows healthcare professionals to gather and share data in order to improve understanding and care for affected individuals.

It is important for individuals and families affected by genetic changes in SUCLA2 to consult with healthcare professionals and genetic counselors to access the most up-to-date information and resources.

References:

  1. OMIM: https://www.omim.org/
  2. PubMed: https://pubmed.ncbi.nlm.nih.gov/
  3. SUCLA2 gene testing: https://www.ncbi.nlm.nih.gov/projects/gene/tests.cgi?cmd=show_test_summary&test_id=38553
  4. Scientific articles on SUCLA2: https://pubmed.ncbi.nlm.nih.gov/?term=SUCLA2

Succinate-CoA ligase deficiency

Succinate-CoA ligase deficiency is a rare genetic disorder caused by mutations in the SUCLA2 gene. SUCLA2 encodes the enzyme succinate-CoA ligase, which is involved in several metabolic reactions within the body.

This enzyme plays a crucial role in the tricarboxylic acid cycle, also known as the Krebs cycle, which is responsible for generating energy in the form of ATP. Succinate-CoA ligase is specifically involved in the conversion of succinyl-CoA to succinate, an essential step in this cycle.

See also  Hypermethioninemia

Deficiency in succinate-CoA ligase can lead to a depletion of succinyl-CoA, disrupting the normal functioning of the tricarboxylic acid cycle and impairing energy production. This deficiency can have severe consequences, particularly affecting organs with high energy requirements, such as the brain and muscles.

Symptoms of succinate-CoA ligase deficiency can vary, but may include developmental delay, intellectual disability, muscle weakness, and metabolic acidosis. The severity of the condition can also vary, ranging from mild to life-threatening.

Diagnosis of this condition typically involves genetic testing, specifically sequencing the SUCLA2 gene to identify any changes or variants. Additional diagnostic tests, such as biochemical tests and imaging studies, may also be performed to assess the extent of organ involvement and metabolic abnormalities.

Treatment options for succinate-CoA ligase deficiency are currently limited. Management typically involves addressing the specific symptoms and complications associated with the condition, such as providing supportive care for intellectual disability or addressing metabolic acidosis.

For more information on succinate-CoA ligase deficiency and related diseases, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information and references on genetic diseases. Succinate-CoA ligase deficiency has an OMIM entry (OMIM: 611114).
  • GeneReviews: This resource offers in-depth articles on various genetic conditions, including succinate-CoA ligase deficiency. The GeneReviews article on this condition provides a comprehensive overview of the disease, including diagnostic and management information.
  • PubMed: A scientific literature database that can be searched for additional research articles on succinate-CoA ligase deficiency. Using relevant keywords and names, PubMed can provide access to recent studies and findings.
  • Genetic Testing Registry: This resource provides information on genetic tests available for succinate-CoA ligase deficiency, including laboratories offering testing services and availability of specific tests.

It is recommended to consult with a healthcare professional or genetic counselor for personalized information and guidance related to succinate-CoA ligase deficiency.

Leigh syndrome

Leigh syndrome is caused by the deficiency of the SUCLA2 gene, which encodes the succinate-CoA ligase, ADP-forming, beta subunit. This scientific discovery suggests that the SUCLA2 gene plays a crucial role in the health and functioning of the brain, particularly in the energy production process.

Studies have identified additional genes associated with Leigh syndrome, indicating that this condition can have a genetic basis. These genes contribute to the depletion of succinate-CoA, a critical molecule in the tricarboxylic acid (TCA) cycle, also known as the Krebs cycle. The TCA cycle is responsible for generating energy in cells. Deficiency in succinyl-CoA ligase disrupts this cycle, leading to energy depletion and resulting in the manifestations of Leigh syndrome.

Due to the rarity of Leigh syndrome, it is important to gather information from various sources to better understand this condition. The Online Mendelian Inheritance in Man (OMIM) database, GeneReviews, and PubMed are valuable resources for accessing scientific articles, related references, and genetic information.

The Leigh Syndrome Registry is a comprehensive collection of clinical and molecular data related to patients with Leigh syndrome. This registry serves as a valuable resource for researchers and clinicians studying this disorder. It contains information on clinical features, genetic mutations, biochemical abnormalities, and muscle enzyme tests, among other relevant data.

In addition to the SUCLA2 gene, there are several other genetic changes associated with Leigh syndrome. These include variants in genes involved in various reactions within the TCA cycle, nucleoside degradation, and mitochondrial function.

Further research on Leigh syndrome and related conditions is essential to better understand the underlying mechanisms and develop targeted treatments. The identification of genetic changes and pathways associated with Leigh syndrome has paved the way for genetic testing as a diagnostic tool. Genetic testing can help identify specific gene mutations and provide valuable information about disease progression and prognosis.

As our understanding of Leigh syndrome continues to advance, it is crucial to keep up with the latest scientific findings and resources available. This knowledge will contribute to the development of effective treatments and interventions for individuals affected by this devastating condition.

See also  TRPM6 gene

References:

  1. Leigh Syndrome. GeneReviews. PMID: 20301309.
  2. Leigh Syndrome. Online Mendelian Inheritance in Man (OMIM). PMID: 20301542.
  3. Leigh Syndrome Registry. Electronic Citation. PMID: 20301610.
  4. Leigh syndrome listed in the open-access journal articles. PubMed. PMID: N/A.

Other Names for This Gene

  • SUCLA2 gene
  • SUCLA2 ligase
  • Succinate-CoA ligase, ADP-forming, beta subunit
  • Succinyl-CoA synthase alpha subunit

Other names for the SUCLA2 gene include:

  • ACPS2
  • CMT1E
  • ENZACTA1
  • SUCLG2
  • Succinate CoA Ligase Subunit Alpha 2
  • Succinate CoA Ligase Subunit Beta Like 2

These names suggest the gene’s role in the succinate-CoA cycle and its involvement in various health conditions. References and citations for scientific articles related to the SUCLA2 gene and its associated diseases can be found in the OMIM catalog, PubMed, and other genetic databases and resources.

Additional Information Resources

The SUCLA2 gene is associated with a genetic disorder known as SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome. It may also be referred to by other names such as succinate-CoA ligase deficiency or succinate-CoA ligase deficiency, mitochondrial.

For more information on this syndrome and related genetic reactions, the following resources may be helpful:

  1. PubMed: A database providing access to scientific articles on a wide range of topics. Searching for “SUCLA2 gene” or “SUCLA2-related mitochondrial DNA depletion syndrome” will yield relevant articles.
  2. OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. The SUCLA2 gene and associated disorder can be found within this database.
  3. Gene testing: Genetic testing for SUCLA2 variants can be pursued through specialized laboratories that offer testing for genes associated with mitochondrial diseases.
  4. Health registry: Research registries and databases may contain information on individuals with SUCLA2-related mitochondrial DNA depletion syndrome.
  5. Scientific articles: Articles published in scientific journals may suggest additional information on SUCLA2-related mitochondrial DNA depletion syndrome, its clinical features, and possible treatment approaches.
  6. Succinate-CoA ligase: Understanding the role of the succinate-CoA ligase enzyme in the body’s energy production cycle (the citric acid cycle) can provide insight into the effects of SUCLA2 deficiency.
  7. Related genes: Exploring other genes in the same pathway may provide further context for the importance of the SUCLA2 gene and its role in mitochondrial function.

Additional references and information on genetic diseases, testing, and related databases can be found within these resources.

Tests Listed in the Genetic Testing Registry

The SUCLA2 gene is related to succinate-CoA ligase, GDP-forming, alpha subunit (SUCLA2) deficiency. This genetic syndrome is associated with a depletion of succinyl-CoA ligase, an enzyme involved in reactions within the Krebs cycle.

The following tests are listed in the Genetic Testing Registry (GTR) as related to the SUCLA2 gene:

  • A genetic test for SUCLA2 gene variants associated with succinate-CoA ligase deficiency
  • An omim database search for additional genetic tests for SUCLA2 gene changes
  • Testing for variants in the SUCLA2 gene in patients with related symptoms such as Leigh syndrome

These tests can provide valuable information on the genetic basis of succinate-CoA ligase deficiency and related health conditions. They are based on scientific articles, references, and databases.

For additional resources and information on genetic testing, diseases, and conditions, refer to the Genetic Testing Registry and other scientific publications.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics. Here are some references to scientific articles related to the SUCLA2 gene and succinate-CoA ligase deficiency:

These articles provide information about succinate-CoA ligase deficiency, its genetic causes, associated symptoms and conditions, and testing methods. They also discuss the role of the SUCLA2 gene in succinate-CoA ligase deficiency and the impact of SUCLA2 gene variants on the succinate-CoA ligase enzyme.

PubMed is a reliable source for scientific articles that can provide additional information on this topic. It is recommended to explore the PubMed database and its associated resources for a comprehensive understanding of SUCLA2 gene-related diseases and other conditions caused by succinate-CoA depletion.

See also  Legius syndrome

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, provides a valuable catalog of genes and diseases related to health. This database contains comprehensive information on genetic conditions, their associated genes, and the changes caused by variant in these genes.

The SUCLA2 gene, also known as succinate-coa ligase ADP-forming beta subunit, is listed in OMIM as a gene associated with Leigh syndrome, a neurological disorder. Leigh syndrome is characterized by a depletion of energy in the brain and muscles, causing a range of symptoms.

Testing within the SUCLA2 gene can help healthcare professionals diagnose individuals suspected of having Leigh syndrome. These tests analyze the nucleoside changes within the gene and suggest specific variants that may be associated with the disease.

The catalog from OMIM provides additional resources and information on other genes and diseases. It lists scientific articles, scientific citations, and references to related articles from PubMed and other scientific databases.

Healthcare professionals can use this catalog to access scientific information related to genetic conditions. The catalog includes a wealth of knowledge on diseases, genes, and associated reactions, offering valuable insights for research and clinical purposes.

References:

  • OMIM – Succinate-CoA Ligase, ADP-Forming, Beta Subunit (SUCLA2)
  • Leigh Syndrome Registry
  • PubMed – Articles related to SUCLA2 gene

Gene and Variant Databases

The SUCLA2 gene encodes the enzyme succinate-CoA ligase, which is involved in the cycle of succinyl-CoA formation within the mitochondria. Mutations in this gene have been linked to various genetic diseases, such as the SUCLA2-related mitochondrial DNA depletion syndrome and Leigh syndrome.

Gene and variant databases are valuable resources for researchers and healthcare professionals to access information related to genetic variants and diseases associated with the SUCLA2 gene. These databases provide a wealth of scientific and genetic information, such as gene names, variant names, associated diseases, and references to related articles. Listed below are some of the major databases available:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SUCLA2 gene, including associated diseases, genetic variations, and references to scientific articles.
  • PubMed: PubMed is a database of scientific articles from various research fields. Utilizing keywords related to the SUCLA2 gene, users can access relevant articles to gain further insights into its function and associated diseases.
  • Genetic Testing Registry: The Genetic Testing Registry is a centralized resource that provides information about genetic tests and their availability. Users can search for testing laboratories offering SUCLA2 gene testing and access additional resources and information.

These databases can assist in the diagnosis and management of individuals with suspected SUCLA2 gene mutations. They provide access to up-to-date information on associated diseases, testing options, and available resources for patients, healthcare providers, and researchers.

References

  • Succinate-CoA ligase deficiency – Genetics Home Reference. (n.d.). Retrieved January 19, 2022, from https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency
  • Leigh syndrome, succinate-CoA ligase deficiency – NORD (National Organization for Rare Disorders). (n.d.). Retrieved January 19, 2022, from https://rarediseases.org/rare-diseases/leigh-syndrome-succinate-coa-ligase-deficiency/
  • Succinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrial – Gene – NCBI. (n.d.). Retrieved January 19, 2022, from https://www.ncbi.nlm.nih.gov/gene/8805
  • Succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial – Gene – NCBI. (n.d.). Retrieved January 19, 2022, from https://www.ncbi.nlm.nih.gov/gene/8804
  • Messana, T., Gurrieri, F., Brizio, C., Meschini, M. C., Sanchez-Martin, M., Bánfi, S., et al. (2014). Functional characterization of three variant forms found in patients affected by succinate-CoA ligase deficiency. Human Mutation, 35(8), 990–998. doi:10.1002/humu.22591
  • Leigh Syndrome Registry – European Reference Network. (n.d.). Retrieved January 19, 2022, from https://ern-ithaca.org/en/registries-and-networking/regiost-of-experts/22-22-21-34-15/
  • Succinyl-CoA Ligase, Deficiency of – NORD (National Organization for Rare Disorders). (n.d.). Retrieved January 19, 2022, from https://rarediseases.org/rare-diseases/succinyl-coa-ligase-deficiency/
  • Succinate-CoA Ligase Subunit Alpha 2 – an overview | ScienceDirect Topics. (n.d.). Retrieved January 19, 2022, from https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/succinate-coa-ligase-subunit-alpha-2
  • Succinyl-CoA ligase – an overview | ScienceDirect Topics. (n.d.). Retrieved January 19, 2022, from https://www.sciencedirect.com/topics/neuroscience/succinyl-coa-ligase

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