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Exp Neurobiol 2014; 23(4): 271-276
Published online December 31, 2014
https://doi.org/10.5607/en.2014.23.4.271
© The Korean Society for Brain and Neural Sciences
Han-Joon Kim and Beom S. Jeon*
Department of Neurology and Movement Disorder Center, Parkinson Study Group,
and Neuroscience Research Institute, College of Medicine, Seoul National University, Seoul, Korea
Correspondence to: *To whom correspondence should be addressed.
TEL: 82-2-2072-2876, FAX: 82-2-3672-7553
e-mail: brain@snu.ac.kr
Mutations causing genetic disorders can occur during mitotic cell division after fertilization, which is called somatic mutations. This leads to somatic mosaicism, where two or more genetically distinct cells are present in one individual. Somatic mutations are the most well studied in cancer where it plays an important role and also have been associated with some neurodegenerative disorders. The study of somatic mosaicism in Parkinson disease (PD) is only in its infancy, and a case with somatic mutation has not yet been described. However, we can speculate that a somatic mutation affecting cells in the central nervous system including substantia nigra dopaminergic neurons could lead to the development of PD through the same pathomechanisms of genetic PD even in the absence of a germ-line mutation. Theoretically, a number of genes could be candidates for genetic analysis for the presence of somatic mosaicism. Among them,
Keywords: somatic mutation, somatic mosaicism, genetics, Parkinson disease