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DARS2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DARS2 gene

The DARS2 gene is responsible for creating a mitochondrial enzyme that ensures proper protein synthesis within the cell's energy centers.

Normal Function

The DARS2 gene provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, which are the energy-producing centers in cells. While most protein synthesis occurs in the cytoplasm, some proteins are synthesized within the mitochondria.

During protein synthesis, a type of RNA called transfer RNA (tRNA) helps assemble amino acids into a chain. Enzymes called aminoacyl-tRNA synthetases, including mitochondrial aspartyl-tRNA synthetase, attach a particular amino acid to a specific tRNA. This enzyme attaches the amino acid aspartic acid to the correct tRNA, ensuring that it is added at the proper place in mitochondrial proteins.

Health Conditions Related to Genetic Changes

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

At least 25 mutations in the DARS2 gene have been identified in people with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), a condition that affects the brain and spinal cord and causes difficulty walking. The most common mutation disrupts the way genetic information is pieced together to create the blueprint for the enzyme. While most copies of the blueprint are pieced together incorrectly, preventing enzyme production, some are processed correctly, allowing for a small amount of normal enzyme to be made.

Other mutations change single amino acids in the enzyme, resulting in decreased enzyme activity. With reduced activity, the enzyme has difficulty adding aspartic acid to the tRNA, which hinders the addition of this amino acid to mitochondrial proteins. It remains unclear why reduced activity of this enzyme specifically affects certain parts of the brain and spinal cord.

Other Names for This Gene

  • aspartate tRNA ligase 2, mitochondrial
  • aspartyl-tRNA synthetase, mitochondrial
  • aspartyl-tRNA synthetase, mitochondrial precursor
  • ASPRS
  • FLJ10514
  • LBSL
  • MT-ASPRS

Frequently Asked Questions

Patients often present with progressive gait instability, spasticity, and ataxia, sometimes accompanied by speech difficulties or vision problems. MRI typically shows white‑matter changes in the brainstem and spinal cord, and elevated lactate on spectroscopy supports the diagnosis.
blood sample is analyzed using targeted sequencing panels for mitochondrial tRNA synthetase genes, including DARS2. The test identifies pathogenic variants and can differentiate between homozygous, heterozygous, or compound heterozygous mutations. Results usually take 3–5 weeks.
There is no cure, but multidisciplinary care can help. Physical therapy improves mobility, occupational therapy assists with daily tasks, and speech therapy addresses dysarthria. Some patients benefit from anti‑spasticity medications (e.g., baclofen) and seizure control if needed. Regular monitoring of metabolic status and lactate levels is also recommended.
While no specific diet has proven efficacy, maintaining a balanced diet with adequate protein and avoiding high‑fat, high‑sugar foods may help reduce metabolic stress. Some clinicians trial supplements like L‑carnitine or coenzyme Q10, but evidence is limited; discuss these options with a metabolic specialist before starting.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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