J Korean Neurol Assoc.  1999 Jul;17(4):534-540.

Point Mutations at alpha-Synuclein Gene are not Found in Korean Familial Parkinson's Disease

• Lyoo CH
• Kim HS
• Kim YD
• Kim JH
• Lee MS

Abstract

BACKGROUND: Recent developments of molecular biological techniques have enabled the identification of genetic abnormalities responsible for the development of familial Parkinson's disease (PD). The alpha-synuclein, a major component of Lewy body in Parkinson's disease and of non-beta-amyloid components of amyloid plaques in Alzheimer's disease, has been identified as one of the factors associated with neurodegenerative diseases. Ala53Thr (G209A) mutation in alpha-synuclein was found in one Italian-American (Contursi) and five unrelated Greek familial PD with autosomal dominant inheritance. Efforts to find the same mutation in many other familial and sporadic PD patients were negative. However, another mutation (Ala30Pro(G88C)) of alpha-synuclein was found in one German person kindred.
METHODS
We performed a genetic analysis to search for these two mutations in four unrelated Korean families with PD and 44 sporadic PD and 30 sporadic multisystem atrophy(MSA) patients.
RESULTS
We did not find any mutations in the index patients of four families or in sporadic PD and MSA patients.
CONCLUSIONS
These findings suggest the possibility that the two identified point mutations do not cause Korean sporadic and familial PD or sporadic MSA. Further evaluation including whole exons associated with the alpha-synuclein gene is needed.

Keyword

alpha-synuclein; Parkinson's Disease; Mutation

MeSH Terms

alpha-Synuclein*
Alzheimer Disease
Exons
Humans
Lewy Bodies
Neurodegenerative Diseases
Parkinson Disease*
Plaque, Amyloid
Point Mutation*
Wills
alpha-Synuclein