Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements
Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements
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DOI：
10.1093/molehr/3.9.811
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发表时间：
1997-09-01
影响因子：
4
通讯作者：
Rohmer, V
中科院分区：
文献类型：
--
作者：
Lestienne, P;Reynier, P;Rohmer, V
一位希望通过胞浆内单精子注射（ICSI）治疗不孕症的患者被转介到我们组进行评估。经临床检查，眼睑下垂（部分闭合）被注意到，组织学显示骨骼肌中有不规则的红色纤维。精子和骨骼肌的Southern blot分析显示存在多个线粒体DNA缺失。这种重排可能是核起源，因为三个核位点被归因于人类的多个线粒体DNA缺失。由于线粒体DNA是母系遗传的，使用ICSI是可行的。然而，核基因产物的改变影响线粒体DNA的完整性，从而影响精子的活动性，可能会遗传给后代，从而有发生线粒体DNA疾病的风险。
A patient who wished to be treated for infertility by intracytoplasmic sperm injection (ICSI) was referred to our group for assessment. Upon clinical examination, a ptosis (partial closure of the eyelid) was noted, and histology revealed ragged red fibres in the skeletal muscle. Southern blot analysis of spermatozoa and skeletal muscle revealed the presence of multiple mitochondrial DNA deletions. This kind of rearrangement may be of nuclear origin since three nuclear loci have been ascribed to multiple mitochondrial DNA deletions in humans. Since mitochondrial DNA is maternally transmitted, the use of ICSI was feasible. However, an alteration of nuclear gene product affecting the integrity of mitochondrial DNA, and thus sperm mobility, might be transmitted to the offspring with the risk of developing a mitochondrial DNA disease.