Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

被引：6

作者：

Sanchez-Ferrero, Elena ^{[1
]}

Coto, Eliecer ^{[1
]}

Corao, Ana I. ^{[1
]}

Diaz, Marta ^{[1
]}

Gamez, Josep ^{[2
]}

Esteban, Jesus ^{[3
]}

Gonzalo, Juan F. ^{[3
]}

Pascual-Pascual, Samuel I. ^{[4
]}

Lopez De Munain, Adolfo ^{[5
]}

Moris, German ^{[6
]}

Infante, Jon ^{[7
]}

Del Castillo, Emilia ^{[8
]}

Marquez, Celedonio ^{[9
]}

Alvarez, Victoria ^{[1
]}

机构：

[1] Hosp Univ Cent Asturias, Lab Med, Mol Genet Lab, Oviedo 33006, Spain

[2] Univ Autonoma Barcelona, Hosp Univ Vall Hebron, Dept Neurol, Barcelona, Spain

[3] Hosp 12 Octubre, Dept Neurol, E-28041 Madrid, Spain

[4] Univ Hosp La Paz, Dept Pediat Neurol, Madrid, Spain

[5] Hosp Donostia Inst Biodonostia Ciberned, Dept Neurol, San Sebastian, Spain

[6] Hosp Univ Cent Asturias, Dept Neurol, Oviedo 33006, Spain

[7] Hosp Univ M Valdecilla, Dept Neurol, Santander, Spain

[8] Hosp Univ Carlos Haya, Genet Unit, Malaga, Spain

[9] Hosp Univ V Rocio, Dept Neurol, Seville, Spain

来源：

JOURNAL OF NEUROLOGY | 2012年 / 259卷 / 02期

关键词：

Spastic paraplegia; Mitochondria; Complicated phenotype; Haplogroups; OPTIC NEUROPATHY; SENSITIVITY; MUTATIONS; ONSET; RISK; AGE;

D O I：

10.1007/s00415-011-6155-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：246 / 250

页数：5

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