Heteroplasmic m.1624C>T mutation of the mitochondrial tRNA(Val) gene in a proband and his mother with repeated consciousness disturbances

Homoplasmic m.1624C>T mutation of the mitochondrial tRNA(Val) gene was previously demonstrated to cause fatal neonatal Leigh syndrome. Here, we report the clinical phenotypes of a Japanese male and his mother with heteroplasmic m.1624C>T mutation. The 36-year-old male presented with repeated e...

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Bibliographic Details
Published in:Mitochondrion 2012-11, Vol.12 (6), p.617-622
Main Authors: Sangatsuda, Yoko, Nakamura, Masayuki, Tomiyasu, Akiyuki, Deguchi, Akiko, Toyota, Yasutaka, Goto, Yu-Ichi, Nishino, Ichizo, Ueno, Shu-Ichi, Sano, Akira
Format: Article
Language:English
Subjects:
Adult
Asian Continental Ancestry Group
Cerebrospinal Fluid - chemistry
Consciousness Disorders - genetics
Consciousness Disorders - pathology
DNA, Mitochondrial - genetics
Female
Humans
Lactic Acid - analysis
Male
Point Mutation
Pyruvic Acid - analysis
RNA, Transfer, Val - genetics
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Summary:Homoplasmic m.1624C>T mutation of the mitochondrial tRNA(Val) gene was previously demonstrated to cause fatal neonatal Leigh syndrome. Here, we report the clinical phenotypes of a Japanese male and his mother with heteroplasmic m.1624C>T mutation. The 36-year-old male presented with repeated episodes of consciousness disturbance since the age of 25, cognitive decline, and personality change. Cerebrospinal fluid levels of lactate and pyruvate were elevated. His mother showed similar symptoms and course. The mutation m.1624C>T was identified heteroplasmically in the proband's muscle and leukocytes and in the mother's leukocytes. The heteroplasmy load decreased with age.
ISSN:1872-8278
DOI:10.1016/j.mito.2012.10.002