کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2069574 | 1078409 | 2012 | 6 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances](/preview/png/2069574.png)
Homoplasmic m.1624C>T mutation of the mitochondrial tRNAVal 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.
► Heteroplasmic m.1624C>T mutation was identified in neuropsychiatric cases.
► The cases exhibited milder phenotypes than the homoplasmic cases reported elsewhere.
► The proportions of m.1624T in muscle was higher than that in leukocyte.
► The heteroplasmy load decreased with age.
Journal: Mitochondrion - Volume 12, Issue 6, November 2012, Pages 617–622