Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family
Identifieur interne : 001E80 ( Main/Exploration ); précédent : 001E79; suivant : 001E81Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family
Auteurs : Russell H. Swerdlow [États-Unis] ; Janice K. Parks [États-Unis] ; John N. Davis Ii [États-Unis] ; David S. Cassarino [États-Unis] ; Patricia A. Trimmer [États-Unis] ; Lillian J. Currie [États-Unis] ; John Dougherty [États-Unis] ; W. Scott Bridges [États-Unis] ; James P. Bennett Jr. [États-Unis] ; G. Frederick Wooten [États-Unis] ; W. Davis Parker [États-Unis]Source :
- Annals of Neurology [ 0364-5134 ] ; 1998-12.
Abstract
Recent data suggesting complex I dysfunction in Parkinson's disease (PD) arises from mitochondrial DNA (mtDNA) mutation does not conclusively answer whether the responsible genetic lesion is inherited (primary) or somatic (secondary). To address this question, we identified a family in which multiple members over three generations are affected with PD through exclusively maternal lines. Cytoplasmic hybrids (cybrids) were created for 15 family members over two generations by trnsferring each individual's mtDNA to mtDNA‐depleted human neuroblastoma cells. Eight of the 15 cybrid lines contained mtDNA obtained from maternally descended family members and seven contained mtDNA from paternally descended family members. After 6 weeks of culture, cybrid cell lines were assayed for complex I activity and oxidative stress, and mitochondrial morphology was analyzed by electron microscopy. Compared with the cybrid lines containing mtDNA from paternal descendants, cybrid lines containing mtDNA from maternal descendants had lower complex I activity, increased reactive oxygen species production, increased radical scavenging enzyme activities, and more abnormal mitochondrial morphologic features. These findings were present in cybrid lines containing mtDNA from maternal descendants with PD as well as in currently asymptomatic young maternal descendants, and support a precedent for inherited mtDNA mutation in some persons with PD.
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DOI: 10.1002/ana.410440605
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To address this question, we identified a family in which multiple members over three generations are affected with PD through exclusively maternal lines. Cytoplasmic hybrids (cybrids) were created for 15 family members over two generations by trnsferring each individual's mtDNA to mtDNA‐depleted human neuroblastoma cells. Eight of the 15 cybrid lines contained mtDNA obtained from maternally descended family members and seven contained mtDNA from paternally descended family members. After 6 weeks of culture, cybrid cell lines were assayed for complex I activity and oxidative stress, and mitochondrial morphology was analyzed by electron microscopy. Compared with the cybrid lines containing mtDNA from paternal descendants, cybrid lines containing mtDNA from maternal descendants had lower complex I activity, increased reactive oxygen species production, increased radical scavenging enzyme activities, and more abnormal mitochondrial morphologic features. These findings were present in cybrid lines containing mtDNA from maternal descendants with PD as well as in currently asymptomatic young maternal descendants, and support a precedent for inherited mtDNA mutation in some persons with PD.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Tennessee</li><li>Virginie</li></region></list><tree><country name="États-Unis"><region name="Virginie"><name sortKey="Swerdlow, Russell H" sort="Swerdlow, Russell H" uniqKey="Swerdlow R" first="Russell H." last="Swerdlow">Russell H. Swerdlow</name></region><name sortKey="Bennett Jr, James P" sort="Bennett Jr, James P" uniqKey="Bennett Jr J" first="James P." last="Bennett Jr.">James P. Bennett Jr.</name><name sortKey="Bennett Jr, James P" sort="Bennett Jr, James P" uniqKey="Bennett Jr J" first="James P." last="Bennett Jr.">James P. Bennett Jr.</name><name sortKey="Bridges, W Scott" sort="Bridges, W Scott" uniqKey="Bridges W" first="W. Scott" last="Bridges">W. Scott Bridges</name><name sortKey="Cassarino, David S" sort="Cassarino, David S" uniqKey="Cassarino D" first="David S." last="Cassarino">David S. Cassarino</name><name sortKey="Currie, Lillian J" sort="Currie, Lillian J" uniqKey="Currie L" first="Lillian J." last="Currie">Lillian J. Currie</name><name sortKey="Davis Ii, John N" sort="Davis Ii, John N" uniqKey="Davis Ii J" first="John N." last="Davis Ii">John N. Davis Ii</name><name sortKey="Dougherty, John" sort="Dougherty, John" uniqKey="Dougherty J" first="John" last="Dougherty">John Dougherty</name><name sortKey="Parker, W Davis" sort="Parker, W Davis" uniqKey="Parker W" first="W. Davis" last="Parker">W. Davis Parker</name><name sortKey="Parker, W Davis" sort="Parker, W Davis" uniqKey="Parker W" first="W. Davis" last="Parker">W. Davis Parker</name><name sortKey="Parks, Janice K" sort="Parks, Janice K" uniqKey="Parks J" first="Janice K." last="Parks">Janice K. Parks</name><name sortKey="Parks, Janice K" sort="Parks, Janice K" uniqKey="Parks J" first="Janice K." last="Parks">Janice K. Parks</name><name sortKey="Swerdlow, Russell H" sort="Swerdlow, Russell H" uniqKey="Swerdlow R" first="Russell H." last="Swerdlow">Russell H. Swerdlow</name><name sortKey="Trimmer, Patricia A" sort="Trimmer, Patricia A" uniqKey="Trimmer P" first="Patricia A." last="Trimmer">Patricia A. Trimmer</name><name sortKey="Wooten, G Frederick" sort="Wooten, G Frederick" uniqKey="Wooten G" first="G. Frederick" last="Wooten">G. Frederick Wooten</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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