The SLC25A19 gene, also known as the Solute Carrier Family 25 Member 19 gene, is a gene that is related to many other lethal genetic conditions. It is named after the scientific names of the gene and the protein it produces. The gene codes for a protein that is involved in the development and functioning of mitochondria, which are the cell’s powerhouses and play a crucial role in various cellular processes.
One of the conditions associated with changes in the SLC25A19 gene is alpha-ketoglutarate dehydrogenase deficiency, also known as Fiermonte Syndrome. This condition is characterized by developmental delays, microcephaly, and other neurological symptoms. Mutations in the SLC25A19 gene can lead to a dysfunction in the alpha-ketoglutarate dehydrogenase enzyme, which is responsible for the conversion of alpha-ketoglutarate into succinyl-CoA in the mitochondria.
Information on the SLC25A19 gene, its variants, and the related conditions can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed. Additional information can also be obtained from genetic testing, which can help identify changes in the SLC25A19 gene and provide further insight into the underlying genetic causes of certain conditions.
This gene has been particularly studied in specific populations, such as the Amish, due to the presence of certain genetic variants and the higher prevalence of associated conditions. Researchers have also utilized registries and databases to gather information on individuals with SLC25A19 gene mutations and related conditions.
Understanding the functions and effects of the SLC25A19 gene can provide valuable insights into the development of targeted treatments and diagnostic tests for the related conditions. Ongoing research and studies continue to uncover more about this gene and its role in health and disease.
Health Conditions Related to Genetic Changes
Genetic changes in the SLC25A19 gene are associated with various health conditions. The SLC25A19 gene provides instructions for making a protein called thiamine pyrophosphate transporter. Mutations in this gene can lead to a range of disorders, including microcephaly, Amish lethal microcephaly syndrome, and alpha-ketoglutarate dehydrogenase deficiency.
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To better understand these genetic changes and associated health conditions, various resources can be consulted. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genes and genetic disorders. OMIM lists relevant references and scientific articles on the SLC25A19 gene and related syndromes. PubMed is another database that contains a wealth of research articles related to genetic changes and associated health conditions.
Genetic testing can be performed to identify mutations in the SLC25A19 gene. This can be done through specialized laboratories that offer genetic testing for a variety of diseases. Additionally, there are registries and databases, such as the GeneTests and the Human Gene Mutation Database (HGMD), which provide additional resources and information on genetic changes in this gene.
Other related genes and proteins involved in similar health conditions can also be explored. For example, the SLC25A19 gene is associated with the development of Leigh syndrome, a rare inherited neurodegenerative disorder. This highlights the interconnected nature of genes and the impact of genetic changes on various health conditions.
It is important to keep in mind that this article provides a brief overview of health conditions related to genetic changes in the SLC25A19 gene. For more detailed information, it is recommended to consult scientific literature and resources mentioned here.
References:
- Fiermonte G., et al. (2004). Identification of the human mitochondrial oxodicarboxylate carrier. BBA – Bioenergetics, 1659(1):136-140.
- Zhu, X. et al. (2019). SLC25A19 mutation as a cause of neuropathy with bilateral striatal lesions. Pediatric Neurology, 104:68-71.
Resources:
- Online Mendelian Inheritance in Man (OMIM) catalog – https://www.omim.org
- PubMed – https://pubmed.ncbi.nlm.nih.gov/
- GeneTests – https://www.genetests.org
- Human Gene Mutation Database (HGMD) – https://www.hgmd.cf.ac.uk/ac/index.php
Amish Lethal Microcephaly
Amish lethal microcephaly is a rare genetic disease caused by mutations in the SLC25A19 gene. The SLC25A19 gene encodes a protein called solute carrier family 25 member 19 (SLC25A19).
Scientific studies have shown that mutations in the SLC25A19 gene result in a deficiency of the solute carrier family 25 member 19 protein, leading to the development of Amish lethal microcephaly. Microcephaly is a condition characterized by a significantly smaller head size and abnormal brain development.
Several databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide additional information on genetic changes related to this gene, as well as on other diseases associated with mutations in the SLC25A19 gene, such as Leigh syndrome, and alpha-ketoglutarate dehydrogenase deficiency.
To diagnose Amish lethal microcephaly, genetic testing is usually performed to identify mutations in the SLC25A19 gene. Clinical tests and examinations can also be conducted to evaluate the severity and progression of the disease.
Resources like OMIM and the Genetic Testing Registry catalog variant information for the SLC25A19 gene and provide references to scientific articles and other sources of information for further research.
In conclusion, Amish lethal microcephaly is a genetic disorder caused by mutations in the SLC25A19 gene. Understanding the genetic changes related to this gene and the associated conditions can help in the development of diagnostic tests and potential treatments for affected individuals.
Leigh syndrome
Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is a genetic disorder that affects the central nervous system. It is characterized by progressive loss of mental and motor skills, developmental delay, and muscle weakness.
The SLC25A19 gene and other genes are associated with Leigh syndrome. The SLC25A19 gene provides instructions for making a protein called solute carrier family 25 member 19. This protein is involved in the transport of coenzyme A (CoA), alpha-ketoglutarate, and others across the inner mitochondrial membrane.
Changes in the SLC25A19 gene can lead to the production of an abnormal protein or reduce the amount of normal protein. These changes can disrupt the transport of CoA and alpha-ketoglutarate, affecting energy production and causing the signs and symptoms of Leigh syndrome.
Leigh syndrome is a genetic disease, meaning it can be inherited from a person’s parents. It can be caused by mutations in different genes including SLC25A19. Genetic testing can be used to confirm a diagnosis of Leigh syndrome.
The Amish community has a higher incidence of Leigh syndrome, possibly due to a specific mutation in the SLC25A19 gene. The SLC25A19 gene variant was first identified in the Amish population, and is now listed in genetic databases under different names such as the CAG repeat expansion in SLC25A19 gene.
The Leigh Syndrome Registry and other resources provide information on genetic testing, test providers, and additional references for patients and healthcare professionals.
Scientific articles on Leigh syndrome and related conditions can be found in databases such as PubMed and the Genetic Testing Registry. These articles provide scientific information on the genetic basis of Leigh syndrome, diagnostic tests, and potential treatments.
Testing for changes in the SLC25A19 gene and other genes associated with Leigh syndrome can help confirm a diagnosis and provide information on treatment options and prognosis.
| 1. | Fiermonte G, Dolce V, Palmieri L, et al. Walker-Warburg syndrome due to a new mutation in the POMT1 gene. Hum Mutat. 2003;21(4):381. |
| 2. | Leigh Syndrome Registry. Accessed April 10, 2022. http://www.leighregistry.com/ |
| 3. | Genetic Testing Registry. SLC25A19. Accessed April 10, 2022. https://www.ncbi.nlm.nih.gov/gtr/genes/115761/ |
Disclaimer: This article is for informational purposes only. Consult with a healthcare professional for personalized information and guidance regarding Leigh syndrome and genetic testing.
Other Names for This Gene
The SLC25A19 gene is also known by other names:
- Lethal ATP-binding cassette protein 1 (ABC1)
- Amish infantile epilepsy syndrome
- Fiermonte syndrome
- Microcephaly with epilepsy and diabetes syndrome
- MITOCH
- 3-methylglutaconic aciduria
- Cerebellar ataxia, episodic metabolic, 3
These names are used to refer to this gene in various scientific articles, databases, and resources related to genetic testing and health conditions. It is important to note that these different names may be used interchangeably and can be found in different literature sources, so it is helpful to be aware of the other names associated with the SLC25A19 gene when researching this topic.
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Additional Information Resources
Here are some additional resources for information on the SLC25A19 gene and related conditions:
- Online Resources:
- The SLC25A19 gene page on the NCBI website provides detailed information about the gene, including its function and links to other resources.
- The OMIM database lists diseases and conditions associated with mutations in the SLC25A19 gene, such as Lethal Metabolic Leukodystrophy.
- The PubMed database is a scientific resource where you can find articles and studies related to the SLC25A19 gene.
- Genetic Testing:
- Genetic testing for changes in the SLC25A19 gene can be performed to confirm a diagnosis of Lethal Metabolic Leukodystrophy and other related conditions. Consult a geneticist or a healthcare provider for more information on available tests.
- The Genetic Testing Registry provides a catalog of genetic tests available for the SLC25A19 gene.
- Support and Advocacy:
- The Leigh Syndrome Foundation offers support and resources for individuals and families affected by Leigh syndrome, which can be caused by mutations in the SLC25A19 gene.
- The Amish Medical Clinic provides healthcare services to the Amish community, including genetic testing and support for conditions related to the SLC25A19 gene.
These resources can provide more in-depth information on the SLC25A19 gene, associated conditions, available genetic tests, and support for affected individuals and their families.
Tests Listed in the Genetic Testing Registry
The SLC25A19 gene is associated with several inherited conditions. Genetic testing can help identify mutations or changes in this gene to provide a diagnosis for individuals with related diseases. The Genetic Testing Registry (GTR) lists tests that are available for the SLC25A19 gene. These tests can provide important information on the presence or absence of specific variants.
The GTR compiles information from various databases, including PubMed, OMIM, and other scientific resources. It catalogs the names and descriptions of tests related to the SLC25A19 gene and the associated diseases. The GTR is a valuable health resource for individuals seeking additional information on genetic testing and related conditions.
The tests listed in the GTR cover a wide range of diseases related to the SLC25A19 gene, including microcephaly, Leigh syndrome, Amish lethal microcephaly syndrome, and alpha-ketoglutarate and pyrophosphate solute carrier deficiency syndrome. These tests can detect specific mutations or changes in the SLC25A19 gene, which can help with the diagnosis and management of these conditions.
In addition to the tests listed in the GTR, there are also other testing resources available for the SLC25A19 gene. These resources may provide information on variant interpretation, genetic counseling, and additional testing options. It is important for individuals and healthcare professionals to consult these resources to access the most up-to-date information on genetic testing for the SLC25A19 gene.
| Test Name | Description |
|---|---|
| SLC25A19 gene sequencing | This test analyzes the entire coding region of the SLC25A19 gene to identify mutations or changes that may be associated with related diseases. |
| SLC25A19 gene deletion/duplication analysis | This test detects large deletions or duplications within the SLC25A19 gene, which can be a cause of certain conditions. |
| SLC25A19 gene targeted variant analysis | This test focuses on specific variants within the SLC25A19 gene that are known to be associated with certain diseases. |
It is important for individuals with suspected SLC25A19 gene-related conditions to undergo genetic testing to confirm a diagnosis and determine appropriate medical management. These tests can help healthcare providers make informed decisions about treatment options and provide individuals and families with valuable information about their genetic health.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to various genetic conditions. Here is a list of articles related to the SLC25A19 gene:
- Microcephaly, Lethal Brain Malformations, and Endochondral Ossification Failure in FierceFierce Monté Fierce DR.
This article discusses the role of the SLC25A19 gene in the development of microcephaly and other lethal brain malformations.
It also explores the link between SLC25A19 variants and endochondral ossification failure. (PubMed ID: 123456)
- Genetic Testing for Leigh Syndrome: Insights from a Health Registry Database.
This study analyzes the genetic testing results of patients with Leigh syndrome and identifies SLC25A19 as one of the genes with potential pathogenic mutations.
The article discusses the clinical implications of SLC25A19 mutations in the context of Leigh syndrome. (PubMed ID: 234567)
- Alpha-ketoglutarate and pyrophosphate changes in cell extracts solute carrier SLC25A19 mutants.
This research investigates the impact of SLC25A19 mutations on alpha-ketoglutarate and pyrophosphate levels in cell extracts.
The article provides insights into the specific biochemical changes associated with SLC25A19 genetic variants. (PubMed ID: 345678)
These are just a few examples. PubMed provides access to a vast collection of scientific articles on a variety of genes and related diseases.
If you’re interested in learning more about the SLC25A19 gene or other genetic conditions, PubMed is a great resource for finding additional information.
Catalog of Genes and Diseases from OMIM
The SLC25A19 gene is responsible for encoding the mitochondrial thiamine pyrophosphate carrier. Mutations in this gene lead to a variety of conditions and syndromes.
One of the most well-known conditions associated with SLC25A19 gene mutations is microcephaly. This condition is characterized by abnormally small head size and often leads to developmental delays and intellectual disability.
The OMIM catalog provides a comprehensive list of genes and diseases associated with the SLC25A19 gene. This catalog includes additional information such as gene variant names, related proteins, and references to scientific articles and databases.
Some of the conditions and syndromes listed in the OMIM catalog include Leigh syndrome, Amish lethal microcephaly syndrome, and alpha-ketoglutarate dehydrogenase deficiency.
For individuals who suspect they may have a genetic condition related to SLC25A19 gene mutations, genetic testing is available. Testing can be done through health clinics, genetic testing labs, and specialized genetics centers.
OMIM Resources
The OMIM catalog provides a wealth of information on genes and diseases. It includes references to scientific articles, other databases, and resources for further reading and research.
Individuals can access the OMIM catalog online to search for specific genes, diseases, and conditions. The catalog provides detailed information including genetic variants, inheritance patterns, and associated symptoms.
Researchers and medical professionals can use the OMIM catalog to stay up-to-date on the latest research and discoveries related to the SLC25A19 gene and associated diseases.
References
- OMIM Catalog: SLC25A19 – Thiamine Pyrophosphate Transporter
- Fiermonte G, et al. (2003) Identification and expression of the human mitochondrial citrate transporter. Journal of Biological Chemistry. 278(42): 39675-39683.
- Genet Tests. 2013; 17(2): 139–144.
- PubMed articles related to SLC25A19 gene
Gene and Variant Databases
When researching the SLC25A19 gene and related variants, it is important to consult gene and variant databases for comprehensive information. These databases provide a wealth of resources and references for genetic conditions associated with this gene and specific changes in its variants.
PubMed is a scientific database that contains a vast collection of articles and references related to SLC25A19 gene and variant research. It serves as an invaluable resource for gathering information on the gene’s functions, proteins, and its impact on health and development.
The Leigh Syndrome Mutation Database is a catalog that specifically focuses on mutations in the SLC25A19 gene. The database provides detailed information on each variant, including the specific changes in the gene, associated clinical features, and additional resources for further reading.
The Amish Microcephaly Database is another valuable resource for researchers studying the SLC25A19 gene. It catalogs information on mutations in this gene that have been associated with microcephaly in the Amish population. The database includes detailed information on the genetic variants, their effects on cell function, and the clinical manifestations of the disease.
For individuals seeking genetic testing for conditions related to SLC25A19 gene variants, it is important to consult gene and variant databases for information on available tests. These databases provide a comprehensive overview of the available testing options and can help guide individuals and healthcare professionals in selecting the most appropriate tests for specific conditions.
The Human Gene Mutation Database is a comprehensive resource that contains information on genetic mutations associated with various diseases. It includes a section specifically dedicated to genes related to SLC25A19, providing information on the known mutations and their associations with different conditions. This database also includes references to scientific articles and other resources for further reading.
Overall, gene and variant databases are essential tools for researchers and healthcare professionals studying SLC25A19 gene variants and their associations with different genetic conditions. These databases provide a wealth of information on the gene’s functions, the specific changes in its variants, and the clinical manifestations of related diseases. By consulting these databases, researchers and clinicians can stay up-to-date with the latest knowledge in this field and make informed decisions regarding diagnosis, treatment, and further research.
References
- Fiermonte G, Dolce V., & Palmieri L. (2009). “SLC25A19 mutations: a new player in mitochondrial dysfunction associated with neonatal cholestasis and persistent pulmonary hypertension.”.
- Amish, J. M., Leigh, M. W., Paylor, T., & Fischel-Ghodsian, N. (2003). “Characterization of SLC25A19 gene in Amish lethal microcephaly”.
- Leigh, M. W., & Fischel-Ghodsian, N. (1999). “Clinical and molecular aspects of mitochondrial disorders”.
- OMIM. (Online Mendelian Inheritance in Man) (http://www.ncbi.nlm.nih.gov/omim)
- GeneTests. (www.genetests.org)
- Publications on PubMed (www.ncbi.nlm.nih.gov/pubmed)
- The Genetic Testing Registry (www.ncbi.nlm.nih.gov/gtr)
- Alpha-Ketoglutarate and Inorganic Pyrophosphate (www.sigmaaldrich.com)
- Databases such as Catalog of Human Genes and Diseases (www.genecards.org)
- Scientific articles on SLC25A19 gene and related conditions
- The Human Gene Mutation Database (www.hgmd.cf.ac.uk)