A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.
OBJECTIVE
To analyze mitochondrial DNA (mt DNA) gene mutations in a 19-year-old female patient, who presented with chronic progressive external ophthalmoplegia (CPEO), together with her mother and younger sister.


METHODS
The diagnosis of mitochondrial myopathy was made based on clinical and biologic analysis. Histochemical methods were used to detect ragged-red fibers (RRFs) and ragged-blue fibers (RBFs) on a muscle biopsy of the patient. All mitochondrial gene DNA fragments of the patient, her mother, and younger sister were amplified by polymerase chain reaction. The products were sequenced and compared with reference databases.


RESULTS
A novel T1658C mutation and a known A10006G mutation were identified in the mitochondrial tRNA(Val) gene and the tRNA(Gly) gene, respectively, in the patient, her mother, and younger sister. The T1658C mutation changes the T loop structure of mitochondrial tRNA(Val) and the A10006G mutation disturbs the D loop of mitochondrial tRNA(Gly).


CONCLUSIONS
The T1658C and A10006G mutations of mtDNA may be responsible for the pathogenesis of the patient with CPEO.
Yan
Naihong
N
Ophthalmic Laboratories and Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, PR China.
Cai
Shuping
S
Guo
Bo
B
Mou
Yi
Y
Zhu
Jing
J
Chen
Jun
J
Zhang
Ting
T
Li
Ronghua
R
Liu
Xuyang
X
D000293:Adolescent; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009690:Nucleic Acid Conformation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D012313:RNA / Q000737:chemistry / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012366:RNA, Transfer, Val / Q000737:chemistry / Q000235:genetics*; D055815:Young Adult
D004272:DNA, Mitochondrial; D000077278:RNA, Mitochondrial; D012366:RNA, Transfer, Val; D012313:RNA
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