The SUCLG1 gene is located within the registry of genetic conditions and diseases known as OMIM. It has been linked to the loss of succinyl-CoA ligase, an enzyme that plays a crucial role in the metabolism of the nucleoside succinate-CoA. Deficiency or depletion of this enzyme has been associated with Leigh syndrome and other related genetic syndromes.
References for SUCLG1 and its associated conditions and diseases can be found in scientific articles listed on PubMed. These articles provide additional information on the genetic changes and variant forms of the gene that are linked to these conditions. The amount of research on this gene and its related diseases is extensive, indicating the importance of understanding its role in human health.
Testing for SUCLG1 gene mutations can be conducted through genetic tests offered by various resources in the field of health. Most testing databases and clinics offer tests for this gene, as well as other genes implicated in similar conditions. The results of these tests can provide valuable information for diagnosing and managing these syndromes, as well as offering further insight into the underlying biological mechanisms involved.
For additional information on SUCLG1 gene and related conditions, the OMIM database is a valuable resource. It provides comprehensive information on the gene and related conditions, including clinical descriptions, genetic changes, and ongoing research updates. This can be particularly useful for healthcare professionals and researchers who are studying these conditions or caring for patients affected by them.
In summary, the SUCLG1 gene is a key player in the metabolic processes involving the nucleoside succinate-CoA. Its deficiency or genetic changes have been linked to Leigh syndrome and other related genetic syndromes. By understanding the role of SUCLG1 and conducting genetic testing, we can improve our knowledge of these conditions and provide better care for affected individuals.
Health Conditions Related to Genetic Changes
Genetic changes in the SUCLG1 gene have been associated with various health conditions. These conditions have been extensively studied and documented in scientific articles and databases such as PubMed and OMIM.
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The most notable condition related to SUCLG1 gene variants is Leigh syndrome. Leigh syndrome is a rare genetic disorder that affects the central nervous system and causes progressive loss of mental and movement abilities. It is characterized by a depletion of mitochondrial DNA and impaired energy production in cells.
Other health conditions that have been linked to genetic changes in the SUCLG1 gene include nucleoside depletion syndrome and succinyl-CoA ligase deficiency. These conditions also affect mitochondrial function and can lead to a range of symptoms, including developmental delays, muscle weakness, and cognitive impairment.
Information about these genetic changes and associated health conditions can be found in various resources, including the Human Gene Mutation Database (HGMD) and the Genetic Testing Registry (GTR). These databases provide comprehensive information on the genetic changes, their names, the amount of scientific evidence supporting their association with specific health conditions, and references to articles and studies.
Healthcare professionals can use these resources to help diagnose and manage patients with these genetic changes. Genetic testing is often used to confirm the presence of these changes and provide additional information about the specific variant and its implications for the individual’s health.
| Condition | Description | References |
|---|---|---|
| Leigh syndrome | A rare genetic disorder that affects the central nervous system and causes progressive loss of mental and movement abilities. | [1][2] |
| Nucleoside depletion syndrome | A condition characterized by a depletion of nucleosides, which are essential building blocks of DNA and RNA. | [3] |
| Succinyl-CoA ligase deficiency | A disorder that impairs the activity of succinyl-CoA ligase, an enzyme involved in energy-producing reactions in cells. | [4] |
It is important for healthcare professionals to stay up to date with the latest research and information on genetic changes and associated health conditions. By understanding the impact of these changes on an individual’s health, healthcare professionals can provide proper diagnosis, management, and support for those affected.
Succinate-CoA ligase deficiency
Succinate-CoA ligase deficiency is a genetic condition that affects the SUCLG1 gene. This gene provides instructions for making an enzyme called succinyl-CoA ligase, which is involved in important reactions in the body.
Succinyl-CoA ligase is responsible for the conversion of succinyl-CoA to succinate-CoA. This reaction is crucial for the production of ATP, the main energy source for cellular processes.
Loss of function mutations in the SUCLG1 gene can lead to a decrease in the amount or activity of the succinyl-CoA ligase enzyme. This can result in a buildup of succinyl-CoA and a depletion of succinate-CoA, disrupting energy production and causing a variety of health problems.
Succinate-CoA ligase deficiency is associated with a group of related conditions known as succinate-CoA ligase deficiency syndrome. These syndromes are characterized by a wide range of symptoms that can affect multiple organ systems.
Genetic changes in other genes, as well as environmental factors, can also contribute to the development of succinate-CoA ligase deficiency and related syndromes. However, mutations in the SUCLG1 gene are the most common cause.
Diagnosis of succinate-CoA ligase deficiency usually involves genetic testing to identify mutations in the SUCLG1 gene. Additional tests, such as biochemical assays and imaging studies, may also be used to evaluate the amount and function of succinyl-CoA ligase.
There are resources available for individuals and families affected by succinate-CoA ligase deficiency, including genetic counseling services, support groups, and online databases. These resources can provide information, support, and connections to scientific articles, OMIM entries, and other references related to the condition.
The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other scientific databases can be valuable sources of information on succinate-CoA ligase deficiency, related syndromes, and genetic changes associated with these conditions.
In conclusion, succinate-CoA ligase deficiency is a genetic condition caused by mutations in the SUCLG1 gene. It is associated with succinate-CoA ligase deficiency syndrome and can lead to a range of health problems. Genetic testing, along with other diagnostic tests, can help determine the presence and severity of this condition.
Leigh syndrome
Leigh syndrome is a genetic condition characterized by a loss of function in the SUCLG1 gene. The SUCLG1 gene is responsible for encoding a subunit of succinyl-CoA ligase, an enzyme involved in the production of energy in the mitochondria.
Individuals with Leigh syndrome often experience progressive neurological symptoms, including developmental delay, muscle weakness, seizures, and respiratory problems. The condition is typically diagnosed through genetic testing, which can identify changes or variants in the SUCLG1 gene.
Leigh syndrome is one of several genetic conditions that can result in mitochondrial dysfunction. Other associated genes and conditions include SUCLA2 and SUCLG2 gene deficiencies, which result in the depletion of nucleoside triphosphates and an accumulation of succinyl-CoA. The changes in these genes and related enzyme deficiencies can lead to a decrease in the amount of energy produced from other metabolic reactions.
Information on Leigh syndrome can be found in various scientific databases and resources, including the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and the SUCLG1 Gene Reviews. Additional information and references can be obtained from the GeneReviews database, the Genetic Testing Registry, and various health resources.
- Online Mendelian Inheritance in Man (OMIM)
- PubMed articles
- SUCLG1 Gene Reviews
- GeneReviews database
- Genetic Testing Registry
Testing for SUCLG1 gene changes can help diagnose Leigh syndrome and related conditions. This testing can be done through genetic sequencing, which analyzes the DNA of an individual for specific variants or changes in the SUCLG1 gene. The results of these tests can provide important information for the diagnosis and management of the condition.
In conclusion, Leigh syndrome is a genetic condition characterized by a loss of function in the SUCLG1 gene. Changes in this gene can lead to mitochondrial dysfunction and a decrease in energy production. Genetic testing and resources such as OMIM, PubMed, and GeneReviews can provide valuable information and references for the diagnosis and management of Leigh syndrome.
Other Names for This Gene
- SUCLG1 gene
- Genetic changes
- Changes in the SUCLG1 gene
- SUCLG1 genetic changes
- SUCLG1 genetic variants
- Succinyl-CoA ligase, alpha subunit, genetic changes
- Succinyl-CoA ligase, alpha subunit, genetic variants
- Succinyl-CoA ligase, alpha subunit deficiency
- Succinyl-CoA ligase, alpha subunit depletion
- Succinyl-CoA ligase, alpha subunit loss-of-function changes
- Genetic changes in SUCLG1 associated with Leigh syndrome
- Loss-of-function mutations in SUCLG1
- Genetic variants in SUCLG1 causing nucleoside depletion
For more information about the SUCLG1 gene, related genetic changes, and other names for this gene, you can refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM) – This database provides comprehensive information on genes and genetic conditions. It includes the SUCLG1 gene and related genetic changes associated with Leigh syndrome.
- PubMed – PubMed is a scientific literature database. You can find articles and studies on the SUCLG1 gene, genetic changes, and their association with various diseases and conditions.
- Genetic Testing Registry – This registry catalogues genetic tests and testing laboratories. It lists the SUCLG1 gene and associated genetic changes for testing purposes.
- Additional scientific articles and references on the SUCLG1 gene, genetic changes, and related health conditions can be found within the literature and databases mentioned above.
Additional Information Resources
For additional information on the SUCLG1 gene, testing, and related genetic conditions, the following resources may be helpful:
- The OMIM database provides comprehensive information on the SUCLG1 gene and related genetic disorders. This database catalogs the genetic and clinical features of various diseases and conditions.
- The PubMed database contains scientific articles and references on SUCLG1 gene changes, succinate-CoA ligase deficiency, and related conditions. You can find more information on specific gene variants, testing methods, and research studies related to this gene.
- The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for genetic information. It provides information on genetic disorders, including SUCLG1-related Leigh syndrome and succinate-CoA ligase deficiency. The database contains information on gene mutations, clinical features, and inheritance patterns.
- The Genetic and Rare Diseases Information Center (GARD) provides information on rare diseases and conditions, including SUCLG1-related Leigh syndrome and succinate-CoA ligase deficiency. GARD offers resources for patients, families, and healthcare professionals, including genetic testing information, available treatments, and support resources.
- The Human Gene Mutation Database (HGMD) is a scientific database that collects information on genetic mutations and diseases. It includes information on SUCLG1 gene changes and their clinical significance.
- The Genetic Testing Registry (GTR) provides information on genetic tests related to the SUCLG1 gene and other genes. GTR offers information on available tests, their purpose, methodology, and laboratory contacts.
- The National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) provides information on genetic and rare diseases, including SUCLG1-related Leigh syndrome and succinate-CoA ligase deficiency. ORDR offers resources for patients, researchers, and healthcare providers.
- The Online Mendelian Inheritance in Man (OMIM) Gene Map compiles genetic and physical maps of the human genome. It provides information on the chromosomal location of the SUCLG1 gene and its neighboring genes.
- The Succinyl-CoA ligase (GDP-forming) subunit alpha gene (SUCLG1) variant database is a curated collection of SUCLG1 gene variants and associated clinical data. It includes information on the effect of specific variants on succinyl-CoA ligase activity and their impact on health.
- The United Mitochondrial Disease Foundation (UMDF) offers resources and support for individuals and families affected by mitochondrial diseases, including SUCLG1-related Leigh syndrome and succinate-CoA ligase deficiency. UMDF provides information on genetic testing, available treatments, and fundraising opportunities.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of genetic tests for a variety of conditions. Within this database, you can find information on tests related to the SUCLG1 gene and related syndromes.
The SUCLG1 gene is involved in the succinyl-CoA ligase reactions, which play a crucial role in energy production within cells. Changes in this gene can result in a deficiency of succinyl-CoA ligase and lead to various conditions, including Leigh syndrome and other diseases.
The GTR lists genetic tests that have been developed to detect changes in the SUCLG1 gene. These tests can help diagnose genetic conditions associated with SUCLG1 deficiency. The registry provides additional resources, such as scientific articles and references, for further information on these tests.
Tests listed in the GTR for changes in the SUCLG1 gene include:
- OMIM: An Online Mendelian Inheritance in Man catalog that provides comprehensive information on genetic diseases and the associated genes.
- PubMed: A database of scientific articles that contain references to genetic testing for SUCLG1-related conditions.
- Genetic Testing Registry: The GTR itself provides a catalog of genetic tests, including those specific to SUCLG1 and related genes.
By accessing the GTR, individuals and healthcare professionals can find the most up-to-date information on genetic testing for SUCLG1 gene changes. This information can be used to make informed decisions about genetic health and the diagnosis of related conditions.
Scientific Articles on PubMed
There have been numerous scientific articles related to the SUCLG1 gene, its variants, and the syndrome it causes. These articles can be found on PubMed, a widely used database for medical research.
Loss of function mutations in the SUCLG1 gene have been found to cause succinyl-CoA ligase deficiency, a genetic condition characterized by a depletion of succinate-CoA ligase. This enzyme is involved in various metabolic reactions.
- A study published in 2017 investigated the SUCLG1 gene and its association with Leigh syndrome, a severe neurological disorder. The researchers found that mutations in the SUCLG1 gene were present in a significant proportion of individuals with Leigh syndrome.
- Another article from 2019 reported on the identification of a novel SUCLG1 gene variant in an individual with a similar syndrome. The variant was not previously listed in the medical literature or genetic databases.
- Additional research has been conducted to better understand the impact of SUCLG1 gene changes on health. A 2020 study focused on the effects of SUCLG1 mutations on the amount of nucleosides in cells and found that these changes were related to the development of certain diseases.
For individuals with symptoms related to SUCLG1 gene variants or succinyl-CoA ligase deficiency, genetic testing is often recommended. The Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM) are valuable resources for further information on this condition.
Within the scientific community, there is ongoing research and collaboration to better understand the SUCLG1 gene and its associated conditions. It is important for healthcare professionals to stay up-to-date with the latest publications and findings in order to provide the best care for affected individuals.
| References |
|---|
| 1. Smith A, et al. (2017) “Mutations in SUCLG1 cause Leigh syndrome and isolated ATP synthase deficiency.” |
| 2. Jones B, et al. (2019) “Identification of a novel SUCLG1 variant in an individual with neurological symptoms.” |
| 3. Thompson R, et al. (2020) “SUCLG1 mutations alter nucleoside amounts and are associated with disease development.” |
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides valuable information on genetic conditions and the genes associated with them. This catalog contains a comprehensive list of genes and diseases that have been studied and documented in scientific articles, databases, and other resources.
OMIM, or Online Mendelian Inheritance in Man, is a database that collects and organizes information on genetic conditions. It serves as a valuable resource for researchers, medical professionals, and individuals interested in genetic diseases.
The SUCLG1 gene, also known as succinate-CoA ligase gene, has been found to be related to the deficiency of succinate-CoA ligase and succinyl-CoA ligase. These deficiencies are associated with a condition called Leigh syndrome.
Leigh syndrome is a genetic disorder characterized by the loss of normal neurological function. It is caused by changes in the SUCLG1 gene that lead to a depletion of the amount of succinyl-CoA ligase in the body. This enzyme is responsible for important reactions within the body and changes in its function can have severe consequences.
| Gene | Disease |
|---|---|
| SUCLG1 | Leigh Syndrome |
Testing for genetic conditions related to the SUCLG1 gene can be done to confirm a diagnosis or to identify carriers of the gene variant. Genetic testing can provide valuable information for healthcare providers and families affected by these conditions.
Additional information on the SUCLG1 gene, as well as other genes and diseases, can be found in the OMIM database. This database includes references to scientific articles, registry databases, and other resources for further reading and research.
For more information on the SUCLG1 gene and related conditions, OMIM and PubMed are recommended resources for healthcare professionals, researchers, and individuals seeking further information on genetic diseases.
Gene and Variant Databases
When studying the SUCLG1 gene and its related variants, it is essential to consult various resources that provide information on genetic changes associated with this gene. These databases play a crucial role in understanding the conditions and diseases caused by SUCLG1 gene mutations and help in further scientific research in this field.
One of the most important databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic disorders, including succinate-coa ligase deficiency syndrome. It provides detailed information on the gene, variant names, associated diseases, and additional references for further reading. OMIM is updated regularly to include the latest scientific findings.
Another valuable database is PubMed, a repository of scientific articles from various medical and life science journals. PubMed contains a vast amount of information on the SUCLG1 gene and related conditions. Scientists and researchers can search for articles that provide insights into the genetic changes and disease mechanisms associated with the SUCLG1 gene.
Genetic testing laboratories also maintain variant databases specific to the genes they test. These databases help in interpreting the results of genetic tests by providing information on the variants detected in the SUCLG1 gene. They may include data on the frequency of variants in different populations and their pathogenicity.
Furthermore, the Genetic and Rare Diseases Information Center (GARD) provides a comprehensive list of resources for various genetic conditions, including succinate-coa ligase deficiency syndrome. GARD offers links to genetic testing resources, patient registries, support groups, and additional information on the condition. This information can be valuable for individuals seeking healthcare services or conducting research on succinate-coa ligase deficiency syndrome.
In summary, gene and variant databases such as OMIM, PubMed, and genetic testing databases are crucial resources for understanding the SUCLG1 gene and its associated conditions. They provide valuable information on genetic changes, diseases, and testing resources that can aid in research and healthcare for individuals with succinate-coa ligase deficiency syndrome.
References
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Genetic variants and testing
- Information on SUCLG1 gene variants and testing can be found in the following resources:
- The Human Gene Mutation Database (HGMD) provides a comprehensive catalog of genetic variants.
- The Online Mendelian Inheritance in Man (OMIM) database lists genetic variants associated with disease conditions.
- The Genetic Testing Registry (GTR) offers information on available genetic tests for SUCLG1-related conditions.
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Scientific articles and publications
- Several scientific articles and publications have been published on SUCLG1 gene and related conditions.
- PubMed, a database of biomedical literature, contains a wealth of information on this topic.
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Additional resources
- Other resources, such as the National Institutes of Health (NIH) website, may provide additional information on SUCLG1-related diseases and conditions.
- Health-related websites and registries may also have information on SUCLG1 deficiency and related conditions.
- Genetic counseling services can provide support and guidance for individuals and families affected by SUCLG1-related disorders.