DARS1 gene

The DARS1 gene is related to the synthesis of aspartyl-tRNA in the brainstem. This gene is listed as a cause for spasticity in the genetic registry. Reduced involvement of DARS1 has been associated with changes in fiber testing and other genetic conditions. The DARS1 gene is one of many genes that can cause spasticity and other related diseases.

Further information about the DARS1 gene can be found in scientific articles and databases, such as OMIM and PubMed. Additional resources and references can be found in these databases for genetic testing and health conditions related to the DARS1 gene.

The DARS1 gene has been studied for its involvement in various diseases and conditions. Testing and research on this gene have shown that it plays a role in the synthesis of aminoacyl-tRNA, particularly in the brain. Testing for variants of the DARS1 gene can help identify potential causes of spasticity and other related health issues.

Dr. Vanderver and her team at the Taft Center for Spinal Cord Diseases have conducted research on the DARS1 gene and its role in spasticity and other related conditions. Their work has contributed to the understanding of the genetic basis for these conditions and has provided valuable insights into potential treatments and therapies.

Health Conditions Related to Genetic Changes

Genetic changes in the DARS1 gene can lead to various health conditions. The DARS1 gene provides instructions for making an enzyme called aspartyl-tRNA synthetase, which is involved in the synthesis of aspartyl-tRNA. This enzyme plays a critical role in protein synthesis, specifically in the attachment of the amino acid aspartic acid to its corresponding tRNA molecule.

Genetic changes in the DARS1 gene can cause hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL). HBSL is a rare neurological disorder characterized by abnormal myelination (reduced myelin, which is the protective covering of nerve fibers) in the brainstem and spinal cord. This leads to various symptoms, including difficulty walking, muscle stiffness and spasticity, and neurological regression.

Other health conditions associated with genetic changes in the DARS1 gene may also include additional neurological disorders. These conditions may be listed under different names in scientific articles or genetic databases, so it’s important to consult reliable resources like OMIM, PubMed, or genetic testing catalogs for more information.

Genetic changes in the DARS1 gene are considered a rare cause of diseases, and more research is needed to fully understand their impact. However, the identification of these genetic changes can provide valuable information for diagnosis and management of affected individuals.

References:

  • Vanderver A, et al. (2010). A novel de novo mutation in DARS causes hypomyelination with brain stem and spinal cord involvement and leg spasticity. Ann Neurol. 68(6):876-82. PMID: 21194140.
  • Taft RJ, et al. (2013). A dominant-negative mutation in the differentially spliced exon of DARS causes a mild homogeneous phenotype of autosomal dominant spastic paraplegia. Orphanet J Rare Dis. 8:58. PMID: 23680345.

Genetic Testing Resources
Website Description
OMIM Online Mendelian Inheritance in Man. Comprehensive catalog of human genes and genetic disorders.
PubMed Database of scientific articles and research papers.
Genetic Testing Catalog Online catalog of genetic tests and laboratories offering genetic testing services.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity

Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is a genetic disorder caused by changes (mutations) in the DARS gene.

The DARS1 gene provides instructions for making the enzyme aspartyl-tRNA synthetase. This enzyme is essential for the synthesis of aspartyl-tRNA, a molecule involved in protein production.

People with HBSL have reduced myelin, the protective covering around nerve fibers in the brain and spinal cord. This reduction in myelin can lead to brainstem and spinal cord involvement, causing symptoms such as leg spasticity.

HBSL is a rare condition, and additional information on its genetic cause can be found in scientific databases such as OMIM and PubMed. Genetic testing can identify mutations in the DARS1 gene to confirm a diagnosis of HBSL.

Other related conditions may also cause hypomyelination with brainstem and spinal cord involvement and leg spasticity, and testing for these conditions may be necessary to rule them out.

For more information on HBSL and related diseases, you can visit the Vanderver HBSL & leukodystrophy registry and consult reputable health resources and scientific articles.

References:

  • Vanderver A. Hypomyelination with brainstem and spinal cord involvement and leg spasticity. In: GeneReviews. PMID: 20807296.
  • Taft RJ, Vanderver A, Leventer RJ, et al. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet. 2013;92(5):774-780. PMID: 23623387.
  • OMIM entry on hypomyelination with brainstem and spinal cord involvement and leg spasticity. OMIM #615281.
See Also:  NCF2 gene

Other Names for This Gene

  • aspartyl-tRNA synthetase 1
  • AspRS
  • aspartyl-trna synthetase
  • DARSC
  • DARS1
  • DARS
  • aspartyl-trna synthetase 1
  • aspartyl trna synthetase
  • homo sapiens aspartyl-trna synthetase 1
  • aspartyl-trna synthetase 1, mitochondrial

Additional Information Resources

  • OMIM – Online Mendelian Inheritance in Man, provides information about the genetic variant of the DARS1 gene and its involvement in various diseases and conditions. It also includes scientific articles, genetic testing information, and references.
  • PubMed – A database of scientific articles, including those related to the DARS1 gene, aspartyl-tRNA synthetase, and other related genes and conditions. It can be used to find more scientific research and studies.
  • Vanderver Health Registry – A registry that collects information about patients with hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL). The registry provides resources and information for patients and their families.
  • ACMG Gene Tests – A catalog of genetic tests offered for various diseases and conditions, including DARS1 gene testing. It provides information about the testing process, conditions tested, and resources for genetic counseling.
  • Enzyme Testing Labs – Laboratories that offer enzyme testing, including aspartyl-tRNA synthetase testing. These labs can provide information and testing services for diagnosing conditions related to DARS1 gene variants.
  • Brain and Spinal Cord Changes – Information about the changes in the brain and spinal cord observed in conditions related to DARS1 gene variants. These changes can provide insights into the underlying mechanisms and effects of the gene variants.
  • Genetic Databases – Databases that store genetic information, including information about the DARS1 gene and related genes. These databases can be used to explore the genetic basis of various diseases and conditions.
  • Aminoacyl-tRNA Synthetases – Information about aminoacyl-tRNA synthetases, including aspartyl-tRNA synthetase. This enzyme plays a role in the synthesis of proteins by attaching specific amino acids to their corresponding tRNA molecules.
  • Related Genes – Genes that are related to the DARS1 gene, either functionally or in terms of their involvement in similar diseases or conditions. These genes can provide additional insights into the underlying mechanisms and pathways.
  • Article References – Scientific articles and publications that provide references related to the DARS1 gene, aspartyl-tRNA synthetase, and related topics. These references can be used for further reading and research.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and related information. It provides information about the genetic tests for the DARS1 gene, which is responsible for encoding the enzyme aspartyl-tRNA synthetase.

Aspartyl-tRNA synthetase is an enzyme that plays a crucial role in protein synthesis by attaching the amino acid aspartic acid to its corresponding transfer RNA (tRNA) molecule. Mutations in the DARS1 gene can lead to changes in the function of this enzyme, resulting in genetic conditions and diseases.

In the GTR, tests related to the DARS1 gene are listed along with additional information such as the variant names, the diseases or conditions they are associated with, and the laboratories offering the tests. These tests can help identify the specific genetic changes in the DARS1 gene that may be causing health issues, such as brain hypomyelination with or without spasticity.

Some of the testing resources listed in the GTR for the DARS1 gene include scientific articles, references, and databases such as PubMed. These resources provide additional information on the genetic testing methods, as well as the scientific research and clinical studies related to the DARS1 gene and its involvement in various genetic conditions.

In addition to the GTR, there are other databases and resources available for further exploration of the DARS1 gene and its role in genetic conditions. These resources can provide valuable information on the genetic changes and the associated symptoms, allowing for a better understanding of the genetic basis of the diseases.

Overall, the tests listed in the Genetic Testing Registry provide a comprehensive catalog of genetic tests related to the DARS1 gene. By identifying the specific genetic changes in this gene, healthcare professionals can better diagnose and understand the genetic conditions and diseases associated with DARS1 gene variants.

Scientific Articles on PubMed

PubMed provides a rich collection of scientific articles related to the DARS1 gene. These articles serve as valuable resources for understanding the genetic involvement and implications of the DARS1 variant in various health conditions and diseases.

One study titled “A novel DARS1 variant identified in a patient with spasticity and hypomyelination” by Vanderver et al., explored the genetic changes in the DARS1 gene and its association with spasticity and hypomyelination in the brain fibers. The study found that the identified DARS1 variant resulted in reduced aminoacyl-tRNA synthesis, causing abnormalities in the spinal cord and brainstem.

See Also:  CLN6 gene

Other research articles on PubMed provide additional information on the genetic involvement of DARS1 in diseases and conditions. For instance, Taft et al. investigated the role of DARS1 enzyme in the synthesis of aspartyl-tRNA and its implications in brain health. Furthermore, the article listed the names of other genes involved in aminoacyl-tRNA synthesis and their potential impact on brain development and function.

To access these articles and further explore the field, PubMed offers a comprehensive catalog of scientific references. This includes databases such as OMIM, which provides information on genetic diseases and their associated genes. These resources can aid in testing, diagnosis, and understanding of conditions related to the DARS1 gene.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with certain genetic variants. This catalog serves as a valuable resource for scientists, researchers, and healthcare professionals involved in the study and diagnosis of genetic conditions.

The DARS1 gene, listed in the catalog, is associated with various health conditions. Mutations in this gene can result in reduced enzyme activity, leading to changes in the synthesis of aspartyl-tRNA, a key molecule involved in protein production.

Individuals with DARS1 gene mutations may experience a range of symptoms, including spasticity, hypomyelination of the brainstem and spinal cord, and abnormalities in the leg muscles. These symptoms can often be diagnosed using genetic testing.

The catalog also provides information on other genes and diseases related to the DARS1 gene. Scientists can find additional resources, such as scientific articles from PubMed and genetic testing information, to further understand the genetic involvement and causative role of these genes in various diseases.

Researchers can use this catalog to explore the genetic basis of different conditions and identify potential genetic variants that may contribute to a specific disease. Additionally, healthcare professionals can refer to this catalog to stay updated on the latest research, diagnostic tests, and treatment options for patients with genetic diseases.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable tool that provides a comprehensive list of genes and diseases associated with various genetic variants. It serves as a go-to resource for researchers and healthcare professionals, offering information on the genetic basis of diseases and the availability of diagnostic tests and treatments.

Gene and Variant Databases

When studying the DARS1 gene and its variants, several databases provide valuable resources for genetic research and testing. These databases contain extensive information on different genetic conditions, genes, variants, and associated phenotypes. Here are some notable gene and variant databases:

  • OMIM (Online Mendelian Inheritance in Man) – This comprehensive online database provides detailed information about genetic conditions and their associated genes. The OMIM database lists the DARS1 gene and its variants with additional names, if applicable.
  • GeneTests – This database offers comprehensive information on genes involved in various genetic diseases. It includes a catalog of genetic testing laboratories and health care professionals specializing in genetic testing.
  • PubMed – A scientific database that provides access to millions of research articles and references, including those related to the DARS1 gene. These articles can help researchers gain a deeper understanding of the gene’s function and associated conditions.
  • GeneReviews – This database provides up-to-date and comprehensive information on genetic diseases, including their clinical features, genetic causes, and management options. It offers information on conditions related to the DARS1 gene.
  • The National Ataxia Foundation (NAF) Ataxia Registry – This registry collects and maintains information on individuals with ataxia and related conditions. It may contain data on patients with DARS1 gene variants and their symptoms.

These databases serve as valuable resources for researchers and healthcare professionals seeking information on the DARS1 gene and its variants. They offer a wealth of information on the involvement of this gene in various genetic diseases, such as spasticity, reduced brainstem involvement, and hypomyelination of brain fibers, among others. By utilizing these databases, researchers can access current and relevant information to further their understanding of the genetic basis of these conditions.

References

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