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조기 발현 파킨슨병 환자에서 SCA2, SCA3과SCA17 유전자 내의 삼염기 반복수 변화

Trinucleotide Repeats Number in SCA2, SCA3, and SCA17 in Early-Onset Parkinson's Disease

손영호|김중석|김진호|김재우|김상진|백종삼|박미영|이명식|우명수|김윤중|김세미|이필휴|마효일|강석윤|정선주|이명종|신혜원|성영희|류철영|최정미
대한신경과학회 (Korean Neurological Association)|2008.02|대한신경과학회지 (Journal of the Korean Neurological Association)|제26권 제1호|pp. 23-27

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참고문헌

키워드

Parkinson’s diseaseMutationGeneticsTrinucleotide repeats diseaseSCA2SCA3SCA17
주제분류신경과학

초록

Background: Abnormal expansion of trinucleotide repeats in genes causing spinocerebellar ataxias such as SCA2, SCA3, SCA8, or SCA17 was reported in sporadic or familial Parkinson’s disease. Genetic factors play an important role especially in early-onset Parkinson’s disease (EOPD). To investigate mutations of ATXN2, ATXN3, and TBP as a possible cause in Korean EOPD, we analyzed mutations in these genes. We also investgated the possibility that trinucleotide repeats numbers in these genes contribute to the development of EOPD. Methods: Mutation analysis of ATXN2, ATXN3, and TBP was done in 153 EOPD defined as age-at-onset before 51. Distribution of CAG repeats numbers were compared between EOPD and age- and sex-matched controls. Results: No patients with EOPD had CAG repeats numbers in ATXN2, ATXN3, and TBP in mutation range. There was no difference in the distribution of CAG repeats between EOPD and controls, although we found a trend that CAG repeats numbers in ATXN3 appear larger in EOPD than in controls. Conclusions: Mutations of genes causing SCA2, SCA3, or SCA17 may not be a common genetic cause in Korean EOPD.

Abstract

Background: Abnormal expansion of trinucleotide repeats in genes causing spinocerebellar ataxias such as SCA2, SCA3, SCA8, or SCA17 was reported in sporadic or familial Parkinson’s disease. Genetic factors play an important role especially in early-onset Parkinson’s disease (EOPD). To investigate mutations of ATXN2, ATXN3, and TBP as a possible cause in Korean EOPD, we analyzed mutations in these genes. We also investgated the possibility that trinucleotide repeats numbers in these genes contribute to the development of EOPD. Methods: Mutation analysis of ATXN2, ATXN3, and TBP was done in 153 EOPD defined as age-at-onset before 51. Distribution of CAG repeats numbers were compared between EOPD and age- and sex-matched controls. Results: No patients with EOPD had CAG repeats numbers in ATXN2, ATXN3, and TBP in mutation range. There was no difference in the distribution of CAG repeats between EOPD and controls, although we found a trend that CAG repeats numbers in ATXN3 appear larger in EOPD than in controls. Conclusions: Mutations of genes causing SCA2, SCA3, or SCA17 may not be a common genetic cause in Korean EOPD.

참고문헌 (39)

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