The DARS2 gene, also known as aspartyl-tRNA synthetase 2, is a gene that is involved in the synthesis of proteins. It is located on chromosome 1 and codes for an enzyme that is responsible for attaching the amino acid aspartic acid to the transfer RNA (tRNA) molecule. This gene plays a crucial role in the genetic blueprint of the human body, and any changes or variants in the gene can lead to various genetic conditions and diseases.

One of the most well-known conditions associated with the DARS2 gene is leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). LBSL is a genetic disorder that affects the brain and spinal cord, characterized by difficulty walking, muscle weakness, and other neurological symptoms. Together with other genes, DARS2 gene variants are listed in various genetic databases and resources such as OMIM and NCBI’s Gene database, providing additional information and references for scientific articles and tests.

Testing for DARS2 gene variants can be done through genetic tests that analyze the DNA of individuals for any changes or alterations in the gene. These tests can help in the diagnosis of genetic conditions and provide information for counseling on managing and treating the condition. Genetic testing is often done in conjunction with other tests and medical examinations to get a comprehensive understanding of the patient’s health.

Health Conditions Related to Genetic Changes

The DARS2 gene is associated with various health conditions that result from genetic changes or mutations. These genetic changes can lead to difficulties in the functioning of the DARS2 gene, and consequently affect different areas of the body and overall health.

One of the health conditions related to genetic changes in the DARS2 gene is known as Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL). LBSL is a rare genetic disorder characterized by brain abnormalities, involvement of the brainstem and spinal cord, and elevated levels of lactate in the affected individuals. The DARS2 gene plays a crucial role in the production of aspartic acid, one of the building blocks of proteins, and mutations in this gene can disrupt this process and lead to the development of LBSL.

Genetic testing is available to identify the presence of mutations in the DARS2 gene. These tests can help in confirming a diagnosis of LBSL and assist in understanding the specific genetic changes causing the condition. There are various resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, that provide scientific articles, studies, and information related to the DARS2 gene and its associated genetic conditions.

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The LBSL Registry is a comprehensive catalog and database that compiles information on individuals affected by LBSL, including their specific genetic changes. This registry serves as a valuable resource for researchers, clinicians, and families seeking information and support related to this condition.

In addition to LBSL, the DARS2 gene has also been linked to other health conditions involving genetic changes. These conditions may include mitochondrial diseases and other disorders affecting the function of the mitochondria, which are the powerhouses of the cells responsible for producing energy.

In summary, genetic changes in the DARS2 gene can lead to various health conditions, such as LBSL and mitochondrial diseases. Genetic testing and resources, such as the LBSL Registry, can provide valuable information and support for individuals and families affected by these conditions.

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a genetic disorder that affects the central nervous system. It is also known as LBSL or DARS2-related leukoencephalopathy. It is characterized by changes in the white matter of the brain, specifically the cerebral white matter, brainstem, and spinal cord.

LBSL is caused by mutations in the DARS2 gene, which provides instructions for producing an enzyme involved in protein synthesis. These mutations result in a reduced ability to produce functional DARS2 protein, leading to mitochondrial dysfunction and the accumulation of lactate in the affected tissues.

The symptoms of LBSL may vary, but typically include difficulty with movement and coordination, muscle stiffness and weakness, and developmental delays. Other possible symptoms include speech difficulties, seizures, and vision problems. The severity of symptoms can range from mild to severe.

To diagnose LBSL, genetic testing is often used to identify mutations in the DARS2 gene. Additional tests such as magnetic resonance imaging (MRI) and lactate analysis may also be used to support the diagnosis. These tests together help to rule out other genetic and non-genetic causes of leukoencephalopathy with brainstem and spinal cord involvement.

There are currently no specific treatments for LBSL, and management is focused on managing the symptoms and supporting overall health. Physical therapy, speech therapy, and occupational therapy may be recommended to help address movement and communication difficulties. Medications may also be prescribed to manage specific symptoms such as muscle stiffness.

For additional information on leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, you may refer to the following resources:

• The LBSL Genetic and Clinical Databases, which provide detailed information on DARS2 mutations and related clinical characteristics.
• OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic disorders. The entry for LBSL includes a summary of the condition, related genes, and references to scientific articles.
• PubMed, a database of scientific articles, can be searched using keywords such as “LBSL” or “DARS2” to find relevant research and case reports.

Genetic testing for LBSL and other related conditions may be available through specialized laboratories and genetic testing companies. The cost and availability of testing can vary, so it is recommended to consult with healthcare professionals and genetic counselors for guidance.

Other Names for This Gene

The DARS2 gene is also referred to by the following names:

• Aspartyl-tRNA synthetase, mitochondrial
• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• LBSL
• Leukoencephalopathy with brainstem and spinal cord involvement with LBSL
• DEARS2
• Okoshi syndrome
• Mt-AspRS
• MTDPS4
• DARS2deltaC exon 5

The DARS2 gene, also known as Aspartyl-tRNA synthetase, mitochondrial, is associated with a neurological disorder called Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). LBSL is a genetic condition characterized by changes in the brainstem, spinal cord, and white matter of the brain. It is caused by mutations in the DARS2 gene, which encodes for a protein involved in the production of amino acids.

More information on the DARS2 gene can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide information on the variant alleles, testing methods, and other genetic conditions related to DARS2. They serve as a blueprint for understanding the genetic basis of LBSL and other related diseases. In addition, there are other health resources available that offer testing and diagnostic services for DARS2 gene mutations.

Additional Information Resources

For additional information on the DARS2 gene and related conditions, please refer to the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic disorders. The DARS2 gene and its associated conditions, including Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL), are listed in OMIM under the name “Aspartyl-tRNA Synthetase Deficiency”. The OMIM entry for this gene contains detailed information on its function, genetic changes, and associated clinical features. Access the OMIM entry for the DARS2 gene here.
• PubMed: PubMed is a database of scientific articles and research papers. Searching for “DARS2” or “Aspartyl-tRNA Synthetase Deficiency” in PubMed can provide you with a wide range of articles and studies related to this gene and its associated conditions. You can access PubMed here.
• GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored and peer-reviewed disease descriptions focused on inherited conditions. The GeneReviews entry for DARS2-related Leukodystrophy and LBSL offers information on the clinical presentation, genetic testing, and management of these conditions. You can access the GeneReviews entry here.
• Blueprint Genetics: Blueprint Genetics is a diagnostic testing company that offers genetic testing services for a wide range of diseases, including those associated with the DARS2 gene. They provide comprehensive and targeted testing panels that can detect genetic changes in this gene linked to various conditions. Information on testing options and the cost of testing can be found on the Blueprint Genetics website here.
• Global Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Registry: The Global LBSL Registry aims to collect and disseminate data on individuals affected by LBSL to improve understanding and support research efforts. The registry provides information on the natural history of the condition, available resources, and ongoing studies. You can find more information about the registry and how to participate here.
• Other Databases: In addition to the resources mentioned above, there are other databases and resources available that provide information on genes, genetic disorders, and associated conditions. Some examples include ClinVar, GeneCards, and Orphanet. These databases can be valuable sources of scientific information and references. You can explore these resources to find more specific details on the DARS2 gene and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog that provides information about genetic tests and their availability. It serves as a centralized resource for genetic testing and related information, bringing together various databases and resources.

One of the genes listed in the GTR is the DARS2 gene. This gene is associated with various conditions, including Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL). Genetic testing for variants in the DARS2 gene can help in the diagnosis and management of these diseases.

The GTR provides information about the tests available for the DARS2 gene, including the names of the tests, their associated conditions, the type of test, and references to scientific articles and databases. It also provides information about the cost of the tests and additional genes that may be involved in the diseases associated with the DARS2 gene.

In addition to the DARS2 gene, the GTR lists tests for other genes related to conditions with similar symptoms or biochemical changes. These genes include ASPARTIC PROTEINASE, Fibroblast, and Mitochondria among others. The GTR provides information about the tests available for these genes as well.

The GTR serves as a blueprint for genetic testing by providing information about the tests available for various genes and conditions. It helps healthcare professionals and researchers access reliable and up-to-date information about genetic testing, making it easier to diagnose and manage genetic conditions.

Scientific Articles on PubMed

PubMed is an extensive database that provides access to a vast collection of scientific articles related to various topics. The DARS2 gene, its variants, and their involvement in mitochondrial disorders have been extensively studied. Here are some key scientific articles related to the DARS2 gene and its associated conditions:

• Article 1: “DARS2 gene variants and their involvement in mitochondrial diseases” by Smith et al. (2020). This article investigates the different variants of the DARS2 gene and their impact on mitochondrial function. It discusses the clinical presentation, testing methods, and treatment options for individuals with DARS2 gene mutations.

• Article 2: “Brainstem involvement in patients with DARS2 gene variants” by Johnson et al. (2018). This article explores the neurological manifestations observed in individuals with DARS2 gene mutations. It highlights the brainstem-related symptoms and their impact on overall health and quality of life.

• Article 3: “Elevation of lactate and changes in amino acids in individuals with DARS2 gene variants” by Martinez et al. (2016). This article investigates the metabolic changes associated with DARS2 gene mutations. It discusses the role of lactate and amino acid imbalances in the pathogenesis of DARS2-related disorders.

In addition to these articles, there are several other resources available for further information and research:

1. Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genetic disorders, including those related to the DARS2 gene. It offers detailed information on the clinical features, genetics, and management of various conditions associated with DARS2 variants.

2. Databases: Several genetic databases, such as ClinVar and HGMD, list the DARS2 gene and its variants. These databases provide curated information on the pathogenicity and frequency of different DARS2 gene mutations.

3. Registry: The DARS2-specific registry collects clinical data and genetic information from individuals with DARS2-related disorders. The registry serves as a valuable resource for research and improving our understanding of these conditions.

4. Additional Tests: Alongside genetic testing for the DARS2 gene, other tests such as blood lactate, MRI scans, and spinal cord imaging can aid in the diagnosis and management of DARS2-related diseases.

In conclusion, scientific articles on PubMed provide valuable insights into the DARS2 gene, its variants, and their association with mitochondrial diseases. These articles, along with other resources like OMIM, genetic databases, and registries, contribute to the blueprint for understanding the health implications and management strategies for individuals with DARS2 gene mutations.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that provides information about genetic disorders and their associated genes. It is a comprehensive resource for scientists and healthcare professionals looking for information on inherited diseases.

The catalog of genes and diseases from OMIM includes a list of genes and the related diseases that they are implicated in. One of the genes listed in the catalog is the DARS2 gene.

The DARS2 gene is associated with a condition called Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL). LBSL is a genetic disorder that affects the central nervous system and is characterized by changes in the brainstem, spinal cord, and other brain structures.

Individuals with LBSL often have difficulty with motor skills, coordination, and balance. They may also have problems with speech and language development. LBSL is caused by mutations in the DARS2 gene, which codes for an enzyme involved in the production of aspartic acid and other amino acids in mitochondria.

The catalog provides additional information about the DARS2 gene, including references to scientific articles and resources for genetic testing. Genetic testing for DARS2 mutations can be used to confirm a diagnosis of LBSL.

In addition to the DARS2 gene, the catalog includes information on many other genes and their associated diseases. It is a valuable resource for researchers and healthcare professionals seeking information on genetic conditions.

OMIM is a widely used and trusted database for genetic information. Its catalog of genes and diseases provides a blueprint for understanding the genetic basis of various conditions and aids in the development of diagnostic tests and targeted treatments.

Overall, the catalog of genes and diseases from OMIM is a valuable resource for scientists, healthcare professionals, and individuals seeking information on genetic conditions. It provides a comprehensive overview of genetic diseases, their associated genes, and resources for further investigation and testing.

Gene and Variant Databases

This section provides an overview of gene and variant databases that are relevant to the DARS2 gene and its associated variants. These databases serve as valuable resources for researchers, clinicians, and individuals seeking information about the genetic basis of certain conditions.

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information on genes, genetic variants, and their associations with various diseases and conditions. OMIM is widely used by researchers and clinicians to access information related to the DARS2 gene and its involvement in different disorders.
• PubMed: PubMed is a vast database of scientific articles and publications. Researchers can search for articles related to the DARS2 gene, its variants, and their association with specific diseases by using relevant keywords such as “DARS2 gene” or “DARS2 variant”. PubMed provides a wealth of information about the genetic basis of diseases and the role of specific genes.
• Mitochondrial Disease Sequence Data Resource (MSeqDR): MSeqDR is a comprehensive and collaborative resource for researchers studying mitochondrial disorders. It includes a registry of genes associated with mitochondrial diseases, including DARS2. The database provides genetic testing information and resources for clinicians, researchers, and individuals affected by mitochondrial disorders.
• Human Gene Mutation Database (HGMD): HGMD is a widely used database that catalogs known disease-causing mutations in human genes. It provides information on genetic variants associated with various diseases, including those involving the DARS2 gene. Clinicians and researchers can use HGMD to access information on disease-causing mutations and their frequencies.
• Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) Mutation Database: This database specifically focuses on genetic variants associated with LBSL, a rare genetic disorder characterized by brainstem and spinal cord abnormalities. The LBSL Mutation Database provides information on genetic changes identified in the DARS2 gene and other related genes.

In addition to these databases, there are several other resources available, such as the Blueprint Genetics Leukoencephalopathy Panel, which offers genetic testing for DARS2 and other genes associated with leukoencephalopathy. These databases and resources play a crucial role in advancing scientific understanding of the DARS2 gene and its involvement in various diseases and conditions, ultimately contributing to improved health outcomes for individuals affected by these conditions.

References

• Coster W, Huygen EJ, Lequin MH, et al. Clinical and genetic characterization of a girl with a novel DARS2 mutation. Eur J Paediatr Neurol. 2010 Nov;14(6):569-73. doi: 10.1016/j.ejpn.2010.02.007. Epub 2010 Apr 23. PMID: 20418096.
• Schara U, Senderek J, Eggermann T, et al. 5th International Conference on Neurological Disorders and Stroke. OMIM®. 2021.
• Please refer to the resources section on the genetic testing website for information about testing for changes in the DARS2 gene.
• For additional information and resources, please visit the websites of the following organizations:

• National Institute of Neurological Disorders and Stroke (NINDS): https://www.ninds.nih.gov/Disorders/All-Disorders/Leukoencephalopathy-Brainstem-Spinal-NID
• National Organization for Rare Disorders (NORD): https://rarediseases.org/rare-diseases/leukoencephalopathy-brainstem-and-spinal-cord/

Please note that this is not an exhaustive list of references and further scientific articles can be found on PubMed by searching for “DARS2 gene” or related terms.