Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements

被引:88
作者
Lestienne, P
Reynier, P
Chretien, MF
PenissonBesnier, I
Malthiery, Y
Rohmer, V
机构
[1] CHU ANGERS,LAB BIOCHIM & BIOL MOL A,F-49033 ANGERS,FRANCE
[2] CHU ANGERS,LAB HISTOL EMBRYOL CYTOL,F-49033 ANGERS,FRANCE
[3] CHU ANGERS,SERV NEUROL A,F-49033 ANGERS,FRANCE
[4] CHU ANGERS,SERV MED C,F-49033 ANGERS,FRANCE
关键词
hypofertility; ICSI; mitochondrial DNA; multiple deletions;
D O I
10.1093/molehr/3.9.811
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
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.
引用
收藏
页码:811 / 814
页数:4
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