CORRELATION BETWEEN CLINICAL AND MOLECULAR-FEATURES IN 2 MELAS FAMILIES
CORRELATION BETWEEN CLINICAL AND MOLECULAR-FEATURES IN 2 MELAS FAMILIES
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DOI：
10.1016/0022-510x(92)90250-o
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发表时间：
1992-12-01
影响因子：
4.4
通讯作者：
ANGELINI, C
中科院分区：
文献类型：
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作者：
MARTINUZZI, A;BARTOLOMEI, L;ANGELINI, C
我们描述了两个MELAS家族的临床、形态学、生化表现，并将其与线粒体DNA在nt 3243处携带A到G转换的分布和比例相关联。家族A的特点是迟发性MELAS在两个成员，CPEO在一个，在另一个轻微的中枢神经系统参与。患病和未患病个体的20-61%的mtDNA在肌肉中突变，2-18%在血液中突变。临床表现与mtDNA突变率无明显相关性。在家系B中，完全MELAS综合征仅出现在第三代，但在第一代和第二代无症状个体的肌肉中也检测到该突变。血液中突变mtDNA的比例，以及肌肉中较小程度的突变mtDNA的比例，与临床表现的严重程度相关。在MELAS患者的所有无症状母系亲属中始终检测到MELAS突变。我们的结论是，不同的临床表现线粒体脑肌病可能共存于同一个家庭，临床严重程度和分子异常之间的相关性并不总是可识别的-肌肉和血液中的MELAS突变的存在是一个必要的，但不是充分的条件典型的MELAS表型的表达。
We describe the clinical, morphological, biochemical presentation in two MELAS families, and correlate it with the distribution and proportion of mitochondrial DNA carrying the A to G transition at nt 3243. Family A was characterized by late onset MELAS in two members, CPEO in one, and mild CNS involvement in another. 20-61% of mtDNA of affected and unaffected individuals was mutated in muscle, 2-18% in blood. There was no obvious correlation between clinical picture and proportion of mutated mtDNA. In family B full MELAS syndrome appeared only in the third generation, but the mutation was also detected in muscle of asymptomatic individuals of the first and second generation. The proportion of mutated mtDNA in blood, and to a lesser extent in muscle, correlated with the severity of the clinical presentation. The MELAS mutation is consistently detected in all asymptomatic maternal relatives of MELAS patients. We conclude that different clinical presentations of mitochondrial encephalomyopathy may coexist in the same family, and correlation between clinical severity and molecular abnormality is not always recognizable- Presence of the MELAS mutation in muscle and blood is a necessary but not sufficient condition for the expression of the typical MELAS phenotype.