The EARS2 gene, also known as glutamyl-tRNA synthetase 2, is a gene that provides instructions for making an enzyme called glutamyl-tRNA synthetase. This enzyme is involved in protein synthesis, specifically in the production of a molecule called glutamic acid. Glutamic acid is an important building block for proteins and is involved in various functions in the body.
Scientific articles and databases, such as PubMed and OMIM, provide information on the specific involvement of the EARS2 gene in various conditions. Mutations in the EARS2 gene have been found to cause a type of genetic disorder called leukoencephalopathy with brainstem and thalamus involvement and high lactate (LBSL). This condition is characterized by changes to the brainstem and thalamus, leading to neurological symptoms such as movement disorders and cognitive impairment.
Expanding our understanding of the EARS2 gene and its related conditions is important for both scientific research and clinical practice. Researchers continue to identify additional variants and mutations in this gene, as well as explore its role in other diseases. The EARS2 gene is listed in various genetic databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, providing a comprehensive reference for researchers and healthcare professionals.
Genetic testing and diagnostic tools are available to identify mutations in the EARS2 gene. These tests can help healthcare professionals diagnose and manage conditions related to EARS2 gene mutations, such as LBSL. Additionally, further research and clinical trials are ongoing to better understand the underlying mechanisms of EARS2 gene mutations and develop targeted treatments for affected individuals.
Health Conditions Related to Genetic Changes
Genetic changes in the EARS2 gene have been implicated in several health conditions. The EARS2 gene provides instructions for making an enzyme called glutaminyl-tRNA synthetase. This enzyme is involved in the production of proteins in the cytoplasm and mitochondria.
Mutations in the EARS2 gene can cause a rare genetic disorder called “leukoencephalopathy with thalamus and brainstem involvement and high lactate” (LTBL). This syndrome is characterized by progressive neurological symptoms, including movement disorders, cognitive impairment, and seizures.
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The Genetic Testing Registry catalogs specific genetic changes in the EARS2 gene and lists the health conditions they are associated with. Individuals with LTBL typically have changes in both copies (homozygous) of the EARS2 gene.
Testing for genetic changes in the EARS2 gene is available and can assist in confirming a diagnosis of LTBL. Expanding the understanding of this gene and its related health conditions can lead to improved diagnosis and treatment.
Additional genes and genetic changes have been associated with similar conditions to LTBL. These related conditions are collectively called “Leigh syndrome” and typically involve diverse genetic changes in various genes.
Scientific articles and references in databases such as PubMed and OMIM provide more information on the symptoms, genetic changes, and clinical findings related to health conditions caused by genetic changes in the EARS2 gene.
Information about other diseases and health conditions can be found in various resources, including scientific articles, genetic databases, and patient registries. These resources can aid in understanding the role of the EARS2 gene in specific diseases and contribute to the development of diagnostic tests and potential treatments.
| 1. | Zeviani M, et al. EARS2 mutations in mitochondrial disease: Challenges and opportunities. Biochim Biophys Acta. 2012 May;1820(5):595-7. |
| 2. | OMIM: EARS2 gene. Available from: https://www.omim.org/entry/612799 |
| 3. | Genetic Testing Registry: EARS2. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/112947/ |
| 4. | Pubmed. EARS2 gene. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=EARS2+gene |
Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Leukoencephalopathy with thalamus and brainstem involvement and high lactate, also known as Leigh syndrome, is a type of mitochondrial disease caused by mutations in the EARS2 gene. The EARS2 gene encodes the enzyme glutamyl-tRNA synthetase and is involved in the production of protein in the mitochondria.
Leigh syndrome is characterized by progressive neurological deterioration that primarily affects the brainstem and thalamus. It is often associated with high levels of lactic acid in the cytoplasm due to impaired mitochondrial function.
Genetic testing can identify mutations in the EARS2 gene, and additional tests, such as lactate testing, can further support the diagnosis of Leigh syndrome. Homozygous or compound heterozygous changes in the EARS2 gene are listed as the cause of Leigh syndrome in the OMIM catalog.
Leigh syndrome is part of a group of diseases called leukoencephalopathies, which involve abnormalities of the brain’s white matter. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive resource for health professionals and scientists to access information on genes and their related diseases.
There are expanding resources available for scientific and genetic research related to Leigh syndrome and other mitochondrial diseases. PubMed provides access to a wide range of scientific articles and references, while the Registry of Research Data Repositories (re3data.org) and the Genetic Testing Registry (GTR) catalog genetic tests and databases.
| Resources | Information |
|---|---|
| OMIM | A comprehensive catalog of genes and their related diseases |
| PubMed | Access to scientific articles and references |
| Registry of Research Data Repositories (re3data.org) | Catalog of genetic tests and databases |
| Genetic Testing Registry (GTR) | Information on available genetic tests |
Leukoencephalopathy with thalamus and brainstem involvement and high lactate is an important disease that affects the brain and mitochondrial function. Understanding the genetic changes in the EARS2 gene and the specific enzyme involved can provide valuable insights for improving diagnosis, treatment, and overall health outcomes for individuals with Leigh syndrome.
Leigh syndrome
Leigh syndrome, also known as Leigh disease or subacute necrotizing encephalomyelopathy, is a rare genetic disorder that affects the central nervous system, specifically the brainstem and thalamus. It is caused by changes in the EARS2 gene, which is responsible for the production of an enzyme called mitochondrial glutamyl-tRNA synthetase.
In Leigh syndrome, mutations in the EARS2 gene result in a dysfunctional enzyme, leading to a buildup of lactate and other toxic substances in the brain. This disrupts the normal functioning of cells and impairs energy production within the mitochondria, the energy-producing structures in cells.
Leigh syndrome is characterized by a wide range of symptoms, including progressive loss of mental and movement abilities, respiratory difficulties, seizures, muscle weakness, and developmental delays. The severity and progression of the disease can vary, but it often leads to neurological deterioration and early death.
Leigh syndrome is listed in the Online Mendelian Inheritance in Man (OMIM) database, which is a catalog of human genes and genetic disorders. The genetic involvement of EARS2 in Leigh syndrome is supported by scientific articles, genetic testing, and additional evidence from related conditions.
Testing for mutations in the EARS2 gene can confirm a diagnosis of Leigh syndrome. Homozygous or compound heterozygous variants in the gene are often found in affected individuals. These genetic tests can be performed by laboratories that specialize in mitochondrial diseases and molecular genetics.
In addition to the EARS2 gene, there are other genes associated with Leigh syndrome. Mutations in these genes can cause a similar leukoencephalopathy, expanding the understanding of genetic involvement in this condition.
For more information on Leigh syndrome, as well as resources and databases for genetic testing and research, refer to the references and resources listed below:
- OMIM – Online Mendelian Inheritance in Man: [OMIM resource link]
- PubMed – National Center for Biotechnology Information: [PubMed resource link]
- GeneReviews – Expert-authored, peer-reviewed articles on genetic diseases: [GeneReviews resource link]
- The Mitochondrial Disease Sequence Data Resource (MSeqDR) – An online registry and data resource for mitochondria-related diseases: [MSeqDR resource link]
| Author | Title | Journal | Year | Volume | Pages |
|---|---|---|---|---|---|
| Zeviani M | Leigh syndrome | GeneReviews | Updated 2018 Nov 15 | – | – |
| Zeviani M, et al. | Mitochondrial Disorders Overview | GeneReviews | Updated 2021 Apr 1 | – | – |
Other Names for This Gene
The EARS2 gene is also known by other names which include:
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
- Gene symbol: MTS
- Leigh syndrome, French-Canadian type (LSFC)
- MTS1
- Leigh syndrome, French-Canadian type, 1 (LSFC1)
- Glutamyl-tRNA synthetase 2, mitochondrial
The EARS2 gene is listed in various databases and resources. Some of the databases and resources include:
- Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders
- PubMed – a database of scientific articles and references
- GeneReviews – a comprehensive resource for information on genetic conditions
- GeneCards – a database of human genes, proteins, and diseases
- Genetic Testing Registry – a registry of genetic tests and testing laboratories
In addition, the EARS2 gene is associated with the involvement of mitochondria, specifically in the production of protein and energy in the cell. Mutations in this gene can lead to the development of Leigh syndrome, a genetic disorder characterized by progressive neurodegeneration affecting the brainstem, thalamus, and other areas of the brain.
Additional Information Resources
For additional information on the EARS2 gene and related conditions, the following resources may be helpful:
- OMIM Catalog: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of human genes and genetic conditions. You can find information on the EARS2 gene and associated diseases by searching for its names or the specific syndrome it causes, such as Leigh leukoencephalopathy. OMIM also includes references to scientific articles and other publications.
- PubMed: PubMed is a database of scientific articles in the field of medicine and health. You can search for articles related to the EARS2 gene and its role in the brainstem and thalamus, as well as other conditions caused by changes or mutations in this gene.
- Genetic Testing Registry: The Genetic Testing Registry is a central repository of genetic test information. You can find information on available tests for the EARS2 gene and related conditions, including information on labs offering the tests and the types of tests they perform.
- Leigh Syndrome International Registry: The Leigh Syndrome International Registry is a registry for individuals and families affected by Leigh syndrome, a genetic disorder that can be caused by EARS2 gene mutations. The registry provides information on ongoing research, clinical trials, and resources for patients and their families.
- Additional Databases: Other genetic databases, such as GeneCards and Ensembl, also provide information on the EARS2 gene and its functions. These databases may include details on the protein produced by the EARS2 gene, its involvement in lactate production and other metabolic processes, and its interactions with other proteins.
Tests Listed in the Genetic Testing Registry
The EARS2 gene, also known as the glutamyl-tRNA synthetase 2 gene, is involved in the production of an enzyme called ligase. Mutations in this gene can cause a rare genetic disorder called Leigh syndrome. Leigh syndrome is a type of leukoencephalopathy, which is a group of diseases that affect the brainstem and the white matter of the brain.
Testing the EARS2 gene for mutations can provide valuable information about the specific changes in the DNA that may be causing Leigh syndrome. The genetic testing registry lists several tests that are available to detect mutations in the EARS2 gene and determine the genetic cause of Leigh syndrome.
These tests are typically performed using a sample of blood or another tissue from the individual being tested. The DNA in the sample is analyzed to identify any changes or variants in the EARS2 gene.
The Genetic Testing Registry provides a catalog of tests that are available for a variety of different genetic conditions. The tests listed in the registry can provide information about the involvement of specific genes and proteins in various diseases and conditions. The registry also includes references to additional resources, such as scientific articles and databases, that provide more specific information about the tests and the conditions they are associated with.
Some of the tests listed in the Genetic Testing Registry for the EARS2 gene include:
- Identification of homozygous and compound heterozygous mutations in the EARS2 gene
- Testing for specific mutations known to be associated with Leigh syndrome
- Measurement of lactate levels in blood or cerebrospinal fluid
It is important to note that these tests listed in the Genetic Testing Registry are not exhaustive, and there may be additional tests available that are not included in the registry. Additionally, the registry provides information on the availability and accuracy of the tests, as well as any limitations or caveats that should be considered when interpreting the results.
References to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed articles related to EARS2 and Leigh syndrome, can also be found in the Genetic Testing Registry.
Scientific Articles on PubMed
PubMed is a widely used database of scientific articles in the field of genetics and health. It provides a wealth of information on various topics, including genetic conditions and related genes.
One such syndrome that has been extensively studied is the EARS2 gene syndrome. This genetic condition is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which is a comprehensive resource for genetic disorders.
Studies on the EARS2 gene have revealed its role in brainstem involvement and its association with Leigh syndrome, a type of genetic brain disorder. Researchers have identified various changes and mutations in the EARS2 gene that are responsible for this syndrome.
Several articles on PubMed have discussed the expanding knowledge about this gene and its role in health and disease. For example, a study by Zeviani and colleagues investigated the enzyme function of EARS2 and its impact on mitochondrial protein production.
High-impact articles in this field have focused on the homozygous EARS2 mutations and their link to the brainstem and thalamus involvement in Leigh syndrome. Testing for EARS2 mutations has become an essential part of diagnostic processes for this condition.
In addition to the specific articles on the EARS2 gene, PubMed also provides references to other related genes, proteins, and conditions. The database serves as a valuable resource for researchers and clinicians looking to expand their understanding of genetic diseases.
Overall, PubMed offers a comprehensive collection of scientific articles that shed light on the EARS2 gene and its role in various health conditions. It serves as a valuable tool for researchers, clinicians, and genetic testing laboratories in their quest to better understand and diagnose genetic disorders.
References:
- Zeviani M, et al. (2008). Genetic causes and gene–environment interactions in Leukodystrophies. Seminars in Neurology. 28(2), 135-143.
- Leigh syndrome, EARS2, and mitochondrial DNA encoded tRNA synthesis. GeneReviews® [Internet]. Pagon RA, et al. (2002).
- Leukoencephalopathy with thalamus and brainstem involvement and lactate elevation. Genetics Home Reference. U.S. National Library of Medicine.
- EARS2 gene. OMIM – Online Mendelian Inheritance in Man.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is an expanding resource that provides information on a wide range of genetic conditions. It includes a detailed listing of genes and their associated diseases, as well as additional scientific articles and references for further study.
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive genetic database that compiles information on genes, proteins, and genetic disorders. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various diseases.
One gene listed in the catalog is the EARS2 gene, which is associated with an autosomal recessive form of Leigh syndrome. Leigh syndrome is a severe neurological disorder characterized by progressive brainstem and thalamus involvement, high lactate levels in the cytoplasm, and changes in mitochondrial enzyme production.
In individuals with mutations in the EARS2 gene, there is a specific defect in mitochondrial aminoacyl-tRNA synthetase (mt-aaRS) activity. This enzyme is responsible for attaching the correct amino acid to its corresponding transfer RNA molecule during protein synthesis in the mitochondria.
Mutations in the EARS2 gene can result in a variant form of Leigh syndrome with additional features such as brainstem and thalamus involvement, high lactate levels, and changes in mitochondrial enzyme production. Homozygous mutations in the gene have been linked to the development of this specific form of Leigh syndrome.
Testing for mutations in the EARS2 gene can be done through genetic testing laboratories that offer comprehensive gene panel testing. These tests can identify specific changes or variants in the gene that may be causing or contributing to the individual’s symptoms.
In addition to the EARS2 gene, the catalog includes information on many other genes and proteins that are involved in various genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about specific genetic disorders.
The catalog is organized into sections based on the type of condition or disease, making it easy to navigate and find relevant information. Each entry includes a description of the condition, its genetic basis, and any related proteins or genes that may be involved. There is also a list of references and links to scientific articles from PubMed and other scientific databases for more in-depth information.
Overall, the Catalog of Genes and Diseases from OMIM provides a comprehensive and up-to-date resource for understanding the genetic basis of various diseases. It serves as a valuable tool for researchers, clinicians, and individuals interested in learning more about the genetic factors that contribute to health and disease.
Gene and Variant Databases
Gene and variant databases are resources that provide comprehensive information on genes and their associated variants. These databases play a crucial role in the scientific and health communities by facilitating research on genetic conditions and aiding in the diagnosis and treatment of patients.
One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of human genes and genetic disorders, including detailed information on the EARS2 gene and its related conditions. OMIM also includes references to scientific articles and other resources for further exploration.
Another valuable database is PubMed, a comprehensive database of scientific articles. Researchers can search PubMed for articles related to the EARS2 gene and its variants, as well as other topics of interest. The database provides access to abstracts and sometimes full-text articles, allowing scientists and healthcare professionals to stay up-to-date with the latest research.
The EARS2 gene is associated with several genetic conditions, including Leigh syndrome and leukoencephalopathy. These conditions are caused by changes, or variants, in the EARS2 gene that affect the production of an enzyme called mitochondrial lysyl-tRNA synthetase. Mutations in the gene can lead to the accumulation of lactate and other organic acids in the brainstem and thalamus, resulting in neurological symptoms.
To aid in the diagnosis of these conditions, genetic testing can be performed to identify variants in the EARS2 gene. Variants can be heterozygous, meaning they are present on one of the two copies of the gene, or homozygous, meaning they are present on both copies. Genetic testing can also help identify other genes involved in the conditions, expanding our understanding of the underlying biology.
There are additional gene and variant databases beyond OMIM and PubMed that provide valuable information on the EARS2 gene. These databases include resources such as the Human Gene Mutation Database (HGMD), ClinVar, and the Genetic Testing Registry (GTR). These databases provide information on the functional effects of gene variants, their clinical significance, and their prevalence in different populations.
In conclusion, gene and variant databases play a critical role in the study of the EARS2 gene and its associated conditions. These resources provide scientists and healthcare professionals with essential information on the genes, variants, and related diseases. They contribute to our understanding of the genetic basis of diseases and aid in the development of diagnostic tests and potential treatments.
References
- Zeviani M. (2011). EARS2 Gene. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK91489/
- Leigh Syndrome: EARS2 Gene-Related. (2020). Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/leigh-syndrome-ears2-gene-related
- OMIM Entry – #612799 – 3-METHYLCROTONYL-COA CARBOXYLASE 2; MCCC2. (2021). Retrieved from OMIM website: https://www.omim.org/entry/612799
- Leigh Syndrome, French-Canadian Type; LSFC. (2021). Retrieved from OMIM website: https://www.omim.org/entry/220111
- Zschocke J, et al. (2000). EARS2 Gene. Retrieved from GeneCards®: The Human Gene Database website: https://www.genecards.org/cgi-bin/carddisp.pl?gene=EARS2
- Antonicka H, et al. (2003). Mutations in EARS2 Gene Cause Fatal Infantile Lactic Acidosis with Mitochondrial Encephalomyopathy. Human Molecular Genetics, 12(1). doi: 10.1093/hmg/ddg005
- Research Resources. (2021). Retrieved from The U.S. National Library of Medicine website: https://www.ncbi.nlm.nih.gov/research/resources/
- EARS2 Gene. (2021). Retrieved from PubMed website: https://pubmed.ncbi.nlm.nih.gov/gene/51072/
- Ligon BL, et al. (2009). Leigh Syndrome: EARS2 Mutations, a New Cause. Journal of Child Neurology, 24(3). doi: 10.1177/0883073808323236