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

Abstract

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.

• Authors: Yoko Sangatsuda, Masayuki Nakamura, Akiyuki Tomiyasu, Akiko Deguchi, Yasutaka Toyota, Yu-Ichi Goto, Ichizo Nishino, Shu-Ichi Ueno, Akira Sano
• Journal: Mitochondrion (Mitochondrion) Vol. 12 Issue 6 Pg. 617-22 (Nov 2012) ISSN: 1872-8278 [Electronic] Netherlands
• PMID: 23063709 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Val
• Lactic Acid
• Pyruvic Acid

Topics

• Adult
• Asian People
• Cerebrospinal Fluid (chemistry)
• Consciousness Disorders (genetics, pathology)
• DNA, Mitochondrial (genetics)
• Female
• Humans
• Lactic Acid (analysis)
• Male
• Point Mutation
• Pyruvic Acid (analysis)
• RNA, Transfer, Val (genetics)