表现为严重心肌病的线粒体A3243G突变。
The mitochondrial A3243G mutation presenting as severe cardiomyopathy.
作者信息
Vilarinho L, Santorelli F M, Rosas M J, Tavares C, Melo-Pires M, DiMauro S
机构信息
Department of Clinical Biology, Instituto de Genética Médica, Porto, Portugal.
出版信息
J Med Genet. 1997 Jul;34(7):607-9. doi: 10.1136/jmg.34.7.607.
Abstract
A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNALeu(UUR) gene at nt 3243 ("MELAS mutation"), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 16 maternal relatives identified lower percentages of the mutation only in the oligo-symptomatic mother and brother. This case reinforces the notion that cardiomyopathy can be the presenting and predominant clinical expression of the A3243G mutation.
摘要
一名6岁患有扩张型心肌病的葡萄牙男孩，其肌肉中有大量破碎红纤维（占总数的20%），并伴有严重乳酸酸中毒。分子遗传学分析显示，线粒体转运RNA亮氨酸（UUR）基因在第3243位核苷酸处发生A到G的转变（“MELAS突变”），该突变在其肌肉和血液中的线粒体DNA中分别占88%和68%。对16名母系亲属血液进行的分子研究发现，只有症状较轻的母亲和兄弟携带较低比例的该突变。该病例进一步证实了心肌病可能是A3243G突变的首发及主要临床表型这一观点。
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