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KMID : 0876319990010010011
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Cachon Medical Journal
1999 Volume.1 No. 1 p.11 ~ p.20
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The Analysis of Mitochondrial DNA in the Patients with Essential Tremor
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Lee Uhn
Lee Sang-Gu
Yoo Chan-Jong
Kim Young-Bo
Park Cheol-Wan
Lee Jong-In
Yoo Young-Mi
Han Ki-Soo
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Abstract
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Purpose: Essential tremor(ET) is the most common movement disorder, there has been little agreement in the neurologic literature regarding diagnostic criteria for ET. Familial ET is an autosomal dominant disorder presenting as an isolated postural tremor. The main feature of ET is postural tremor of the arms with later involvement of the head, voice, or legs. In previous studies, it was reported that previous results, it would suggest that ET might be associated with defect of mitochondrial or nuclear DNA. Recent studies are focusing molecular genetic syndrome. And, this study has analysed mitochondrial DNA(mtDNA) from the blood cell of positive control(PC) and ET patients via long and accurate polymerase chain reaction(LA PCR).
Material and Methods: Blood samples were collected from PC and 9 ET patients. Total DNA was extracted twice with phenol followed by chloroform : isoamylalcohol. For the analysis of mtDNA, LA PCR was performed by mitochondrial specific primers.
Result: In the result of LA PCR, a deletion of large quantities were detected within several regions of mtDNA in ET patients except for D-loop and CO I regions.
Conclusion: The authors conclude that ET is a genetic disorder with deficiency of mitochondrial DNA multicomplexes and mitochondrial dysfunction could be a major causative facter of ET. Mitochondrial dysfunction mayl play an important role in clinical criteria in that can be detected genetic alternation and possibility of disease progression among familiar group with ET patients.
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KEYWORD
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Essential tremor, LA PCR, Mitochondrial DNA
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