Mitochondrial DNA point 13731 mutation in spinocerebellar ataxia

Objective To study the possible relationship between the point mutation in mitochondrial DNA(mtDNA)and the progression spinocerebellar ataxia(SCA).Methods Polymerase chain reaction(PCR)was used to amplify the mtDNA segments of these patients and their relatives individuals,40 volunteers.The mtDNA segment lied in the above mtDNA ND5 gene.For PCR products of rhe mtDNA segment,single strand conformation polymorphism(SSCP)was executed to detect mutations and the abnormal segments were sequenced.Results We had found a new mtDNA mutation in segments of mtDNA point 13731(TC),was identified in 1 patient and 1 presymptomatic relatives.Conclusion A new point mutation of detected mitochondrial DNA may be lated to SCA.