Document Detail


Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.
MedLine Citation:
PMID:  21725714     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mitochondrial dysfunction could contribute to the development of spastic paraplegia. Among others, two of the genes implicated in hereditary spastic paraplegia encoded mitochondrial proteins and some of the clinical features frequently found in these patients resemble those observed in patients with mitochondrial DNA (mtDNA) mutations. We investigated the association between common mtDNA polymorphisms and spastic paraplegia. The ten mtDNA polymorphisms that defined the common European haplogroups were determined in 424 patients, 19% with a complicated phenotype. A rare haplogroup was associated with the disease in patients without a SPG3A, SPG4, or SPG7 mutation. Allele 10398G was more frequent among patients with a pure versus complicated phenotype. This mtDNA polymorphism was previously associated with the risk of developing other neurodegenerative diseases. In conclusion, some mtDNA polymorphisms could contribute to the development of spastic paraplegia or act as modifiers of the phenotype.
Authors:
Elena Sánchez-Ferrero; Eliecer Coto; Ana I Corao; Marta Díaz; Josep Gámez; Jesús Esteban; Juan F Gonzalo; Samuel I Pascual-Pascual; Adolfo López De Munaín; Germán Morís; Jon Infante; Emilia Del Castillo; Celedonio Márquez; Victoria Alvarez
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-07-02
Journal Detail:
Title:  Journal of neurology     Volume:  259     ISSN:  1432-1459     ISO Abbreviation:  J. Neurol.     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-01-31     Completed Date:  2012-05-21     Revised Date:  2014-10-29    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  246-50     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adenosine Triphosphatases / genetics
Adolescent
Adult
Aged
Child
Child, Preschool
DNA, Mitochondrial / genetics*
Female
GTP-Binding Proteins / genetics
Haplotypes / genetics*
Humans
Infant
Male
Membrane Proteins / genetics
Metalloendopeptidases / genetics
Middle Aged
Phenotype
Polymorphism, Genetic*
Polymorphism, Restriction Fragment Length / genetics*
Spastic Paraplegia, Hereditary / genetics*
Young Adult
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial; 0/Membrane Proteins; EC 3.4.24.-/Metalloendopeptidases; EC 3.4.24.-/SPG7 protein, human; EC 3.6.1.-/ATL1 protein, human; EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.1.-/GTP-Binding Proteins; EC 3.6.1.-/SPAST protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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