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DARS2 gene

aspartyl-tRNA synthetase 2, mitochondrial

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, the energy-producing centers in cells. While most protein synthesis occurs in the fluid surrounding the nucleus (cytoplasm), some proteins are synthesized in the mitochondria.

During protein synthesis, in either the mitochondria or the cytoplasm, a type of RNA called transfer RNA (tRNA) helps assemble protein building blocks (amino acids) into a chain that forms the protein. Each tRNA carries a specific amino acid to the growing chain. Enzymes called aminoacyl-tRNA synthetases, including mitochondrial aspartyl-tRNA synthetase, attach a particular amino acid to a specific tRNA. Mitochondrial aspartyl-tRNA synthetase attaches the amino acid aspartic acid to the correct tRNA, which helps ensure that aspartic acid is added at the proper place in the mitochondrial protein.

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 that causes this condition disrupts the way genetic information is pieced together to make a blueprint for producing the mitochondrial aspartyl-tRNA synthetase enzyme. Most copies of the blueprint are pieced together incorrectly, which prevents the enzyme from being produced. However, some copies are pieced together correctly, and a small amount of normal enzyme is made. Other mutations change single amino acids in the enzyme. This type of mutation results in decreased mitochondrial aspartyl-tRNA synthetase 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 is unclear how the gene mutations lead to the signs and symptoms of LBSL. Researchers do not understand why reduced activity of mitochondrial aspartyl-tRNA synthetase specifically affects certain parts of the brain and spinal cord.

More About This Health Condition

Other Names for This Gene

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases


  • Lin J, Chiconelli Faria E, Da Rocha AJ, Rodrigues Masruha M, Pereira Vilanova LC, Scheper GC, Van der Knaap MS. Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene. J Child Neurol. 2010 Nov;25(11):1425-8. doi: 10.1177/0883073810370897. Epub 2010 May 25. Citation on PubMed
  • Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krageloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 Mar 25. Citation on PubMed
  • Uluc K, Baskan O, Yildirim KA, Ozsahin S, Koseoglu M, Isak B, Scheper GC, Gunal DI, van der Knaap MS. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. J Neurol Sci. 2008 Oct 15;273(1-2):118-22. doi: 10.1016/j.jns.2008.06.002. Epub 2008 Jul 10. Citation on PubMed
  • van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.