Mitochondrial aspartyl-tRNA synthetase

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 28: NEUROGENETICS.

Nat Genet. 2007 Apr;39(4):534-9. Epub 2007 Mar 25.

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy
with brain stem and spinal cord involvement and lactate elevation.

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.

 

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is a recently defined condition. In this interesting study, mutations were identified in a gene encoding mitochondrial aspartyl-tRNA synthetase, in affected individuals from all 30 families studied.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Leave a Reply

You must be logged in to post a comment.