Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy

被引：17

作者：

Bortot, B. ^{[1
,3
]}

Barbi, E. ^{[2
]}

Biffi, S. ^{[1
,5
]}

Angelini, C. ^{[4
]}

Faleschini, E. ^{[2
]}

Severini, G. M. ^{[1
,3
]}

Carrozzi, M. ^{[1
]}

机构：

[1] IRCCS, Inst Child Hlth, Child Neurol & Psychiat Unit, I-34137 Trieste, Italy

[2] Univ Trieste, Inst Child Hlth, IRCCS, Dept Pediat, I-34137 Trieste, Italy

[3] IRCCS, Inst Child Hlth, Med Genet Unit, I-34137 Trieste, Italy

[4] Univ Padua, Dept Neurosci, Padua, Italy

[5] CBM Scrl, Opt Imaging Lab, Trieste, Italy

来源：

MITOCHONDRION | 2009年 / 9卷 / 02期

关键词：

Met-tRNA and Cox III cosegregating mutations; Exercise intolerance; Autoimmune polyendocrinopathy; CYTOCHROME-C-OXIDASE; MITOCHONDRIAL-DNA MUTATIONS; LACTIC-ACIDOSIS; CHINESE FAMILY; RNA GENE; A1555G MUTATION; HEARING-LOSS; MYOPATHY; DEFICIENCY; MTDNA;

D O I：

10.1016/j.mito.2009.01.006

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We report a 12-year-old patient with growth retardation, exercise intolerance, lactic acidosis (increasing after exercise) and autoimmune polyendocrinopathy type 2. Muscle biopsy shows abundant COX-negative fibers, subsarcolemmal mitochondrial aggregates and markedly reduced activities of all respiratory chain complexes. Genetic analysis identified two new cosegregating mutations in Met-tRNA (m.4415A > G) and Cox III (m.9922A > C), located in highly conserved regions of MtDNA. Both the mutations are heteroplasmics in multiple patients' tissues. Single-muscle fiber analysis showed significantly higher levels of both the mutations in COX-negative than in normal fibers. in addition, a possible link between the mitochondrial dysfunction and the autoimmune disease is suggested. (C) 2009 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：123 / 129

页数：7

共 60 条

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