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 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.
Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan. yoko38@m2.kufm.kagoshima-u.ac.jp
Yoko
Y
Sangatsuda
Masayuki
M
Nakamura
Akiyuki
A
Tomiyasu
Akiko
A
Deguchi
Yasutaka
Y
Toyota
Yu-Ichi
Y
Goto
Ichizo
I
Nishino
Shu-Ichi
S
Ueno
Akira
A
Sano
D000328:Adult; D044466:Asian People; D002555:Cerebrospinal Fluid / Q000737:chemistry; D003244:Consciousness Disorders / Q000235:genetics* / Q000473:pathology*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000032:analysis; D008297:Male; D017354:Point Mutation; D019289:Pyruvic Acid / Q000032:analysis; D012366:RNA, Transfer, Val / Q000235:genetics*
D004272:DNA, Mitochondrial; D012366:RNA, Transfer, Val; D019344:Lactic Acid; D019289:Pyruvic Acid