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Mitochondrion. 2011 Jul;11(4):615-9. doi: 10.1016/j.mito.2011.04.003. Epub 2011 Apr 20.

Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.

Author information

1
Section of Biochemical Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA. glatzc@email.chop.edu

Abstract

An m.1630A>G mutation in the mitochondrial tRNA(Val) (MTTV) was identified in a patient with hearing impairment, short stature and new onset of stroke. This mutation has previously been identified in a patient with the mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). The mother of the proband also had high levels of the m.1630A>G allele present in blood and other tissues, without symptoms. To confirm the pathogenicity of this mutation, we created cybrid cell lines with various mutation loads. The m.1630A>G mutation impairs oxygen consumption, affects the stability of the MTTV and reduces the levels of subunits of the electron transport chain.

PMID:
21540128
PMCID:
PMC3109210
DOI:
10.1016/j.mito.2011.04.003
[Indexed for MEDLINE]
Free PMC Article

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