title: Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.
abstract: 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: Laboratory of Molecular Genetics, Laboratory of Medicine, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain.
authors: Elena
authors: E
authors: Sánchez-Ferrero
authors: Eliecer
authors: E
authors: Coto
authors: Ana I
authors: AI
authors: Corao
authors: Marta
authors: M
authors: Díaz
authors: Josep
authors: J
authors: Gámez
authors: Jesús
authors: J
authors: Esteban
authors: Juan F
authors: JF
authors: Gonzalo
authors: Samuel I
authors: SI
authors: Pascual-Pascual
authors: Adolfo
authors: A
authors: López De Munaín
authors: Germán
authors: G
authors: Morís
authors: Jon
authors: J
authors: Infante
authors: Emilia
authors: E
authors: Del Castillo
authors: Celedonio
authors: C
authors: Márquez
authors: Victoria
authors: V
authors: Alvarez
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000251:Adenosine Triphosphatases / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008666:Metalloendopeptidases / Q000235:genetics; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; D008565:Membrane Proteins; D008666:Metalloendopeptidases; C112889:SPG7 protein, human; C440006:ATL1 protein, human; D000251:Adenosine Triphosphatases; D019204:GTP-Binding Proteins; D000074183:ATPases Associated with Diverse Cellular Activities; D000074181:Spastin; C400283:SPAST protein, human