No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations
No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations
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DOI：
10.1016/j.jns.2003.11.008
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发表时间：
2004-03-15
影响因子：
4.4
通讯作者：
Vissing, J
中科院分区：
文献类型：
--
作者：
Schwartz, M;Vissing, J
随着一名患有严重运动不耐受的患者的发表，其肌肉中突变的mtDNA被证明是父系遗传的，mtDNA的严格母系遗传受到了挑战。在没有明确母体遗传模式的线粒体疾病中，父系mtDNA遗传可能无法识别，因为线粒体单倍型很少在诊断分析中进行研究。为了进一步寻找mtDNA父系遗传的证据，我们重新调查了12例线粒体肌病患者，其中已知的致病突变是散发性的。我们将患者肌肉中的mtDNA单倍型与母亲或患者血液中的mtDNA单倍型进行了比较。在这项小型研究中没有发现父系遗传mtDNA的证据。尽管这些发现表明mtDNA的父系遗传是罕见的，但它们并不排除这种现象可能以仍可能影响遗传咨询和人类学研究的速度发生。(C) 2003 Elsevier B.V.版权所有
With the publication of a patient with severe exercise intolerance, in whom the mutated mtDNA in muscle was shown to be paternally inherited, the strict maternal inheritance of mtDNA was challenged. Paternal mtDNA inheritance may have gone unrecognized in cases of mitochondrial disease with no clear maternal pattern of inheritance because mitochondrial haplotypes are rarely investigated in diagnostic analyses. To find further evidence for a paternal inheritance of mtDNA, we reinvestigated 12 patients with mitochondrial myopathy, in whom the pathogenic mutation was known to be sporadic. We compared the mtDNA haplotypes from the patient's muscle with that of the mtDNA haplotypes in blood from either the mother or the patient. No evidence of Paternal inheritance of mtDNA was found in this small study. Although these findings indicate that the Paternal inheritance of mtDNA is rare, they do not rule out that the phenomenon may occur at a rate that could still affect genetic counselling and anthropological research. (C) 2003 Elsevier B.V. All rights reserved.