Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations

Accumulation of RNA 19 has been associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. We analyzed total RNA in muscle specimens from six patients who had one of three pathogenetic point mutations in the mitochondrial tRNA(Leu(UUR)) gene, including A3243G,...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2003-03, Vol.13 (3), p.259-262
Main Authors: Koga, Atsuko, Koga, Yasutoshi, Akita, Yukihiro, Fukiyama, Ryo, Ueki, Isao, Yatsuga, Shuichi, Matsuishi, Toyojiro
Format: Article
Language:English
Subjects:
Blotting, Northern - methods
Brain - metabolism
Brain Diseases - genetics
DNA, Mitochondrial - genetics
Female
Heart
Humans
Kidney - metabolism
Liver - metabolism
Male
Mitochondrial Myopathies - genetics
Molecular Sequence Data
Muscles - metabolism
Point Mutation - genetics
RNA - metabolism
RNA, Transfer, Leu - genetics
Spleen - metabolism
Uterus - metabolism
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Summary:Accumulation of RNA 19 has been associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. We analyzed total RNA in muscle specimens from six patients who had one of three pathogenetic point mutations in the mitochondrial tRNA(Leu(UUR)) gene, including A3243G, T3271C, and T3303C. Mitochondrial processing intermediates were identified and quantitated by Northern blotting. The percentage of DNA with the mutation also was determined in each patient. The intermediate (RNA 19) was significantly increased in all patients. The proportion of mutation-carrying RNA in processing intermediates was always higher than in the DNA fraction, suggesting that these mutations may have dominant-negative effects on mitochondrial RNA processing events at the tRNA(Leu(UUR)) gene boundary.
ISSN:0960-8966
DOI:10.1016/S0960-8966(02)00267-5