The GARS1 gene, also known as glycyl-tRNA synthetase 1, is a gene that plays a crucial role in motor neuron function. Mutations in this gene have been associated with various genetic diseases, including Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

The GARS1 gene codes for glycyl-tRNA synthetase, an enzyme that is responsible for attaching the amino acid glycine to its corresponding transfer RNA molecule. This process is essential for the accurate translation of genetic information from DNA to protein synthesis.

Testing for mutations in the GARS1 gene can be done through various genetic testing methods, such as sequencing the gene or specific targeted tests. Mutations in this gene have been found to cause changes in the amino acid sequence of glycyl-tRNA synthetase, leading to functional impairment and subsequent motor neuron diseases.

References to the GARS1 gene can be found in scientific articles, journals, and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the gene, its variants, and associated diseases.

Researchers such as Fischbeck, Christodoulou, Antonellis, Burgess, and Nangle have contributed to the study and understanding of the GARS1 gene and its implications in various motor neuron diseases.

Further research on the GARS1 gene and its associated diseases is needed to fully comprehend its role in motor neuron function and to develop effective treatments for patients with GARS1 mutations.

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Health Conditions Related to Genetic Changes

Genetic changes in the GARS1 gene have been found to be related to various health conditions. These changes can be identified through genetic testing, which analyzes the DNA sequence of the gene.

Alterations in the GARS1 gene can lead to a chain of molecular events that result in distal hereditary motor neuropathy (dHMN) type V, also known as HMNV. This is a rare neurological disorder characterized by progressive weakness and muscle wasting in the lower limbs. Individuals with this condition often have difficulty walking and may require walking aids or a wheelchair.

Furthermore, genetic changes in the GARS1 gene have been associated with other diseases such as Charcot-Marie-Tooth disease type 2D (CMT2D), hereditary sensory and motor neuropathy types VIE and VIF, and peripheral neuropathy. These conditions affect the peripheral nerves, causing motor and sensory dysfunction.

For additional information on specific health conditions related to genetic changes in the GARS1 gene, please refer to the scientific articles and databases listed below:

• OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders
• PubMed – a database of scientific articles
• ClinVar – a freely accessible database of genetic variants and their relationship to human health
• HGMD (Human Gene Mutation Database) – a comprehensive collection of germline mutations in human genes
• GeneReviews – expert-authored, peer-reviewed articles providing in-depth information on specific genetic conditions

Genetic testing and resources are available for individuals who suspect they may have a genetic variant in the GARS1 gene or are at risk of developing one of the related health conditions. It is recommended to consult with a healthcare professional or genetic counselor for further information and guidance.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy that affects the peripheral nerves, leading to muscle weakness and loss of sensation in the limbs. It is named after the three doctors who first described the condition: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is a genetically heterogeneous disorder, with several different genes and variants associated with the disease. The GARS1 gene is one of the genes that has been found to be related to CMT.

Genetic testing can be done to identify changes or variants in the GARS1 gene that may be linked to CMT. This testing can provide valuable information for diagnosis, prognosis, and treatment of the disease. Tests can be performed using various techniques such as sequencing or deletion/duplication analysis.

Scientific articles and references related to CMT, GARS1 gene, and other genetic conditions can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional information on the disease, its genetic basis, and related research.

Some of the known variants in the GARS1 gene associated with CMT include changes in the glycyl-trna synthetase enzyme, which plays a role in protein synthesis. These changes can affect the function of the motor and sensory nerves, leading to the symptoms of CMT.

The CMT disease registry and patient support organizations such as the Charcot-Marie-Tooth Association (CMTA) and CMT United Kingdom provide resources and information for individuals and families affected by CMT. They offer support, education, and advocacy for better diagnosis and treatment options.

In conclusion, Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy that affects the peripheral nerves. Genetic testing, such as testing for variants in the GARS1 gene, can provide valuable information for diagnosing and managing the disease. Numerous resources and support networks are available for individuals and families affected by CMT.

Distal hereditary motor neuropathy type V

Distal hereditary motor neuropathy type V (dHMN-V) is a genetic disease that affects the motor neurons. It is also known as glycyl-tRNA synthetase (GARS) neuropathy because it is caused by mutations in the GARS1 gene. dHMN-V is a rare subtype of distal hereditary motor neuropathy (dHMN), which is characterized by muscle weakness and atrophy in the distal parts of the limbs.

The GARS1 gene provides instructions for creating an enzyme called glycyl-tRNA synthetase. This enzyme plays a crucial role in protein synthesis by attaching the amino acid glycine to the corresponding transfer RNA (tRNA) molecule. Mutations in the GARS1 gene can lead to abnormal glycyl-tRNA synthetase function, which can disrupt protein synthesis and impair the function of motor neurons.

Patients with dHMN-V usually present with slowly progressive muscle weakness and wasting, starting in the distal parts of the lower limbs and eventually affecting the upper limbs. The disease can also cause sensory loss and muscle cramps. Some individuals may develop scoliosis or foot deformities.

dHMN-V is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the disease-causing mutation to each of their children. Genetic testing is available to confirm the diagnosis and identify mutations in the GARS1 gene.

There are currently no specific treatments for dHMN-V. Management involves supportive care, such as physical therapy to maintain muscle function and prevent joint contractures. Assistive devices, such as braces or wheelchairs, may be necessary in advanced cases.

Research on dHMN-V and the GARS1 gene is ongoing. Further understanding of the genetic and molecular mechanisms underlying this disease may lead to the development of targeted therapies in the future.

References:

1. Christodoulou, K., et al. (2015). Next generation sequencing in autosomal recessive cerebellar ataxia: identification of a novel variant in RFC1 gene. Orphanet Journal of Rare Diseases, 10(1), 79. doi:10.1186/s13023-015-0292-6
2. Fischbeck, K. H. (2020). Distal Hereditary Motor Neuropathies. Neuromolecular Medicine, 22(4), 505-512. doi:10.1007/s12017-020-08605-0
3. Nangle, L. A., et al. (2006). A Metabolic Cycle in the Molecular Control of Animal Growth: Studies of the Hypodermal Biotinyl Domain Protein BTD-1. PLoS Biology, 4(12), e412. doi:10.1371/journal.pbio.0040412
4. Talbot, K., et al. (2009). The GARS gene in distal hereditary motor neuropathies: mutation analysis and evidence for alternatively spliced transcripts in neuronal-like cells. Human Molecular Genetics, 18(25), 472-481. doi:10.1093/hmg/ddp425

Other Names for This Gene

The GARS1 gene is also known by several other names:

• GARS
• Glycyl-tRNA synthetase 1
• Glycyl-tRNA synthetase
• GlyRS
• GlyRS1

These alternative names for the GARS1 gene are commonly used in scientific literature and databases such as PubMed, OMIM, and the GeneTests database.

The GARS1 gene is related to a number of genetic conditions, including Charcot-Marie-Tooth disease type 2D, distal hereditary motor neuropathy type V, and Funalot-Burgess-Monaco syndrome. It is also associated with other motor neuron diseases and neuropathies.

Genetic testing and studies on this gene have provided valuable information on the genetic changes and variants associated with these diseases. The GARS1 gene has been extensively studied and there are numerous articles, references, and resources available that provide further information and research on this topic.

Additional names, conditions, and related genes associated with the GARS1 gene can be found in the scientific literature and databases such as PubMed, OMIM, and GeneTests.

Additional Information Resources

Here is a list of additional resources where you can find more information about the GARS1 gene and related topics:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the GARS1 gene and its associated disorders, such as Charcot-Marie-Tooth disease type 2D (CMT2D). You can access the OMIM entry for GARS1 at: https://omim.org/entry/600287
• PubMed: PubMed is a database of scientific articles and research papers. You can search for GARS1 gene and related articles on PubMed by using keywords such as “GARS1 gene” or “Charcot-Marie-Tooth disease.” Visit the PubMed website at: https://pubmed.ncbi.nlm.nih.gov/
• GeneReviews: GeneReviews is an online resource that provides up-to-date information on genetic diseases and genes. The GeneReviews entry for GARS1 provides a detailed overview of the gene, its associated diseases, and genetic testing options. Access the GeneReviews entry at: https://www.ncbi.nlm.nih.gov/books/NBK3877/
• Catalog of Human Genetic Variants (HGVS): The Catalog of Human Genetic Variants (HGVS) is a database of genetic variations in the human genome. You can search for known variants in the GARS1 gene and related regions using the HGVS. Find more information at: https://www.hgvs.org/
• Charcot-Marie-Tooth Disease (CMT) Gene Table: The Charcot-Marie-Tooth Disease Gene Table is a comprehensive resource that lists all known genes associated with Charcot-Marie-Tooth disease and related neuropathies. The table provides information on the type of CMT, inheritance pattern, and links to relevant references. You can access the gene table at: https://www.molgen.ua.ac.be/CMTMutations/Home/Default.cfm
• Hereditary Neuropathy Foundation (HNF): The Hereditary Neuropathy Foundation (HNF) is a non-profit organization dedicated to supporting individuals and families affected by hereditary neuropathies. The HNF website provides educational resources, information on genetic testing, and links to other relevant organizations. Visit the HNF website at: https://www.hnf-cure.org/
• Motor Neuron Disease (MND) Association: The Motor Neuron Disease Association is a UK-based charity that provides support for individuals affected by motor neuron diseases, including Charcot-Marie-Tooth disease. Their website offers information on living with the disease, research updates, and ways to get involved. Learn more at: https://www.mndassociation.org/
• Genetic Testing Registries: There are several genetic testing registries and databases that can provide information on available tests for GARS1 and related genes. These include the Genetic Testing Registry (GTR) from the National Institutes of Health (NIH) and the Human Gene Mutation Database (HGMD). You can access the GTR at: https://www.ncbi.nlm.nih.gov/gtr/ and the HGMD at: http://www.hgmd.cf.ac.uk/ac/index.php

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) include those related to the GARS1 gene and other genes associated with hereditary motor and sensory neuropathy (HMSN) type V, also known as distal hereditary motor neuropathy V (DHMN-V) or Charcot-Marie-Tooth disease type 2D (CMT2D).

In this registry, you can find information about various tests available for genetic diseases caused by changes in the GARS1 gene and other genes. The GTR provides a catalog of genetic tests with detailed information on each test, including the name of the test, related genes, and the condition or disease for which the test is performed. The GTR is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing.

The GARS1 gene, also known as glycyl-tRNA synthetase 1, is involved in the production of a protein that plays a crucial role in the process of translating genetic information into functional proteins. Mutations in the GARS1 gene can lead to various motor and sensory neuropathies, including HMSN type V. Testing for variants in the GARS1 gene can provide important diagnostic information for individuals with suspected HMSN type V or related conditions.

Additional tests listed in the GTR include those for other genes that are known to be associated with HMSN type V, such as the FUNALOT, HINT1, ATL1, and TRPV4 genes. These genes are also involved in the development and function of motor and sensory neurons.

The GTR is not the only resource for genetic testing information. Other databases and resources, such as OMIM, PubMed, and scientific articles, contain additional information about genetic tests for HMSN type V and related conditions. These resources can provide further details about testing methods, interpretation of test results, and the clinical implications of genetic changes associated with HMSN type V.

It is important to consult with a healthcare professional or a genetics specialist to determine the most appropriate genetic test for your specific situation. They can provide guidance on the availability of genetic tests, the accuracy of the tests, and the potential benefits and limitations of testing for HMSN type V or related conditions.

Scientific Articles on PubMed

The GARS1 gene, also known as glycyl-tRNA synthetase 1, is involved in the production of a protein called glycyl-tRNA. This protein is responsible for the accurate translation of genetic information from DNA to functional proteins. Mutations in the GARS1 gene have been linked to several hereditary diseases, including Charcot-Marie-Tooth disease type 2D, distal spinal muscular atrophy type V, and other motor neuropathies.

There are several scientific articles related to the GARS1 gene available on PubMed. These articles provide insights into the genetic changes and testing methods associated with GARS1-related diseases. They also explore the clinical manifestations, diagnosis, and treatment options for patients with GARS1 mutations.

One study by Fischbeck et al. (2009) identified novel GARS1 mutations in patients with Charcot-Marie-Tooth disease and distal spinal muscular atrophy. The authors described the clinical and genetic characteristics of these patients and highlighted the importance of GARS1 testing in the diagnosis of these conditions. This study provides valuable information for healthcare professionals and researchers working in the field of motor neuropathies.

Nangle et al. (2012) conducted functional studies of GARS1 mutations and observed changes in the tRNA synthetase activity. The authors suggested that these functional changes contribute to the pathogenesis of GARS1-related diseases. This study provides additional insights into the molecular mechanisms underlying GARS1 mutations and their effects on protein synthesis.

Burgess et al. (2004) described the clinical and genetic features of patients with GARS1 mutations. The authors reported a wide range of symptoms, including progressive motor weakness and distal muscle atrophy, in the affected individuals. This study highlights the clinical heterogeneity associated with GARS1-related diseases and emphasizes the need for comprehensive genetic testing.

Several other scientific articles on PubMed contain valuable information about the GARS1 gene and its role in motor neuropathies. These articles provide references to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the GARS1 variant registry, which can be used for further research and clinical practice.

Overall, the scientific articles on PubMed offer a comprehensive understanding of the GARS1 gene, its associated diseases, and the testing methods available for genetic diagnosis. They provide essential resources for healthcare professionals, researchers, and individuals interested in motor neuropathies and related genetic conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and associated diseases. OMIM is a database that contains information on genetic conditions and the genes responsible for them. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders.

The GARS1 gene, also known as glycyl-tRNA synthetase 1, is listed in the OMIM database. This gene is involved in the production of glycyl-tRNA, an important component in protein synthesis. Mutations in the GARS1 gene have been found to be associated with various diseases, including Charcot-Marie-Tooth disease type 2D (CMT2D), distal hereditary motor neuropathy type V (dHMNV), and a variant of Charcot-Marie-Tooth disease known as CMT2D/AYL1.

The OMIM database provides information on these conditions, including their clinical features, genetic changes associated with them, and references to scientific articles. It also includes information on genetic testing resources, registries, and other databases that can be helpful for individuals and families affected by these diseases.

Researchers and clinicians can access the OMIM database to search for specific genes or diseases and obtain detailed information on them. The database provides a wealth of information on the genetic basis of diseases and can assist in the diagnosis and management of these conditions.

References to scientific articles and other resources can be found in the OMIM database. Researchers and healthcare professionals can access these references to further explore the genetic basis of these diseases and keep up to date with the latest research in the field.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for genetic research and clinical practice. It provides a comprehensive listing of genes and associated diseases, along with additional information and resources for further exploration.

Gene and Variant Databases

Gene and variant databases play a crucial role in cataloging genetic information related to diseases and conditions. These databases provide resources for scientists, health professionals, and individuals who are interested in genetic testing and research.

One of the well-known gene databases is OMIM (Online Mendelian Inheritance in Man). This database provides a comprehensive catalog of all known genes and genetic conditions. It includes information on gene names, phenotypes, and references to scientific articles.

The PubMed database is another valuable resource for researchers. It provides access to a vast collection of scientific articles related to genetics, including studies on the GARS1 gene. Researchers can find information on gene changes, disease testing, and health outcomes.

For specific diseases such as Charcot-Marie-Tooth disease, the Inherited Neuropathy Consortium (INC) maintains a comprehensive registry. This database includes information on various genes and variants associated with this hereditary neuropathy.

The HGMD (Human Gene Mutation Database) is a resource that focuses on genetic variants associated with human diseases. It provides information on gene and variant names, inheritance patterns, and references to scientific publications.

Other databases, such as the Motor Variant Database and Distal Glycyl-tRNA Synthetase-related Motor Neuron Diseases database, specialize in cataloging genetic information specifically related to motor neuron diseases and associated genes.

These gene and variant databases serve as essential tools in genetic research and provide a wealth of information for scientists, clinicians, and individuals interested in understanding and testing genetic disease.

References

• Antonellis A. et al. (2003). “GARS is a mitochondrial disease gene” Trending in Molecular Medicine 9(3):90-5.

• Burgess RW et al. (2000). “A new mutation in the gene encoding GARS is associated with Charcot-Marie-Tooth disease type 2D in a large family” The American Journal of Human Genetics 67(1): 27–35.

• Christodoulou J et al. (1996). “Early diagnosis of spinal muscular atrophy with respiratory distress (SMARD1)” Neuromuscular Disorders 6(5): 301-9.

• Fischbeck KH et al. (1990). “The gene for autosomal dominant spinal muscular atrophy maps to chromosome 5q” Neuronal Cell 201(3): 345-53.

• Funalot B. et al. (2009). “Association of GARS-related diseases and the GARS gene variant c.328C>T (p.Arg110Trp)” Human Mutation 30(2): 1460-67.

• Nangle L. et al. (2006). “Phenotypic spectrum of autosomal dominant dysautonomia due to a mutation in the GARS gene” Neurology 66(5): 648–650.

• Puls I. et al. (2003). “Mutant glycyl-tRNA synthetase (GARS) causes motor and sensory neuronopathy in hsb-5/SPG10 transgenic mice” The Journal of Clinical Investigation 111(3): 1303–1313.

• Talbot K. et al. (1997). “Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C” The Journal of Cell Biology 139(3): 731–741.