Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements
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 analys...
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| Veröffentlicht in: | Molecular human reproduction 1997-09, Vol.3 (9), p.811-814 |
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| container_title | Molecular human reproduction |
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| creator | LESTIENNE, P REYNIER, P CHRETIEN, M.-F PENISSON-BESNIER, I MALTHIERY, Y ROHMER, V |
| description | 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. |
| doi_str_mv | 10.1093/molehr/3.9.811 |
| format | Article |
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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.</description><identifier>ISSN: 1360-9947</identifier><identifier>ISSN: 1460-2407</identifier><identifier>EISSN: 1460-2407</identifier><identifier>DOI: 10.1093/molehr/3.9.811</identifier><identifier>PMID: 9358008</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adult ; Biological and medical sciences ; Birth control ; Blepharoptosis - complications ; Blepharoptosis - genetics ; Blotting, Southern ; DNA, Mitochondrial - analysis ; DNA, Mitochondrial - genetics ; Fertilization in Vitro - methods ; Gene Rearrangement ; Gynecology. Andrology. Obstetrics ; Humans ; Male ; Medical sciences ; Muscle, Skeletal - chemistry ; Oligospermia - complications ; Oligospermia - genetics ; Oligospermia - physiopathology ; Sperm Motility - genetics ; Sperm Motility - physiology ; Spermatozoa - chemistry ; Sterility. Assisted procreation</subject><ispartof>Molecular human reproduction, 1997-09, Vol.3 (9), p.811-814</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c359t-45ec5c640e707c499b5de8eb0e3dd6fea4db6dc96cc308f5798d1de1cc7b707a3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2831469$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9358008$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>LESTIENNE, P</creatorcontrib><creatorcontrib>REYNIER, P</creatorcontrib><creatorcontrib>CHRETIEN, M.-F</creatorcontrib><creatorcontrib>PENISSON-BESNIER, I</creatorcontrib><creatorcontrib>MALTHIERY, Y</creatorcontrib><creatorcontrib>ROHMER, V</creatorcontrib><title>Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements</title><title>Molecular human reproduction</title><addtitle>Mol Hum Reprod</addtitle><description>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.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Birth control</subject><subject>Blepharoptosis - complications</subject><subject>Blepharoptosis - genetics</subject><subject>Blotting, Southern</subject><subject>DNA, Mitochondrial - analysis</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Fertilization in Vitro - methods</subject><subject>Gene Rearrangement</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Muscle, Skeletal - chemistry</subject><subject>Oligospermia - complications</subject><subject>Oligospermia - genetics</subject><subject>Oligospermia - physiopathology</subject><subject>Sperm Motility - genetics</subject><subject>Sperm Motility - physiology</subject><subject>Spermatozoa - chemistry</subject><subject>Sterility. 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Andrology. Obstetrics</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Muscle, Skeletal - chemistry</topic><topic>Oligospermia - complications</topic><topic>Oligospermia - genetics</topic><topic>Oligospermia - physiopathology</topic><topic>Sperm Motility - genetics</topic><topic>Sperm Motility - physiology</topic><topic>Spermatozoa - chemistry</topic><topic>Sterility. Assisted procreation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>LESTIENNE, P</creatorcontrib><creatorcontrib>REYNIER, P</creatorcontrib><creatorcontrib>CHRETIEN, M.-F</creatorcontrib><creatorcontrib>PENISSON-BESNIER, I</creatorcontrib><creatorcontrib>MALTHIERY, Y</creatorcontrib><creatorcontrib>ROHMER, V</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular human reproduction</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>LESTIENNE, P</au><au>REYNIER, P</au><au>CHRETIEN, M.-F</au><au>PENISSON-BESNIER, I</au><au>MALTHIERY, Y</au><au>ROHMER, V</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements</atitle><jtitle>Molecular human reproduction</jtitle><addtitle>Mol Hum Reprod</addtitle><date>1997-09-01</date><risdate>1997</risdate><volume>3</volume><issue>9</issue><spage>811</spage><epage>814</epage><pages>811-814</pages><issn>1360-9947</issn><issn>1460-2407</issn><eissn>1460-2407</eissn><abstract>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.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>9358008</pmid><doi>10.1093/molehr/3.9.811</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Molecular human reproduction, 1997-09, Vol.3 (9), p.811-814 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Oxford University Press Journals All Titles (1996-Current); Alma/SFX Local Collection |
| subjects | Adult Biological and medical sciences Birth control Blepharoptosis - complications Blepharoptosis - genetics Blotting, Southern DNA, Mitochondrial - analysis DNA, Mitochondrial - genetics Fertilization in Vitro - methods Gene Rearrangement Gynecology. Andrology. Obstetrics Humans Male Medical sciences Muscle, Skeletal - chemistry Oligospermia - complications Oligospermia - genetics Oligospermia - physiopathology Sperm Motility - genetics Sperm Motility - physiology Spermatozoa - chemistry Sterility. Assisted procreation |
| title | Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements |
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