儿科
词汇介绍
拓展阅读
解析
congenital 英 /kənˈdʒenɪtl/ 美 /kənˈdʒenɪtl/
释 义 adj. 先天的；天生的
例 句 When John was 17, he died of congenital heart disease. 约翰在17岁那年死于先天性心脏病良。
muscular 英 /ˈmʌskjələ(r)/ 美 /ˈmʌskjələr/
释 义 adj. 肌肉的；肌肉发达的
例 句 The first historical account of muscular dystrophy appeared in 1830, when Sir Charles Bell wrotean essay about an illness that caused progressive weakness in boys. 历史上首次记载肌营养不良是1830年查尔斯贝尔写了一篇相关疾病的文章，该疾病会导致男孩逐步疲软。
dystrophy 英 /ˈdɪstrəfi/ 美 /ˈdɪstrəfi/
释 义 n. 营养障碍；营养失调
例 句 Muscular dystrophy is a group of more than 30 genetic diseases, characterized by progressive weakness and deterioration of skeletal muscles. 肌营养不良是30 种遗传性疾病的一种，以骨骼肌进展性无力和变性为特点。
概述
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
复制标题
MSTO1突变引起mtDNA耗竭，表现为肌营养不良伴小脑受累
发表时间：2019-08-29
影响因子：18.2
作者： Donkervoort S
期刊：Acta Neuropathol
Bi-allelic loss-of-function variants in MSTO1 manifest clinically with a remarkably consistent phenotype of childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy. MSTO1 protein was not detectable in the cultured fibroblasts of all seven patients evaluated, suggesting that pathogenic variants result in a loss of protein expression and/or affect protein stability. Consistent with impaired mitochondrial fusion, mitochondrial networks in fibroblasts were found to be fragmented. Furthermore, all fibroblasts were found to have depletion of mtDNA ranging from 30 to 70% along with alterations to mtDNA nucleoids. Our data corroborate the role of MSTO1 as a mitochondrial fusion protein and highlight a previously unrecognized link to mtDNA regulation.
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