Exp Neurobiol.  2014 Dec;23(4):271-276. 10.5607/en.2014.23.4.271.

Hypothesis: Somatic Mosaicism and Parkinson Disease

• Kim HJ
• Jeon BS

• KMID: 2165533
• DOI: http://doi.org/10.5607/en.2014.23.4.271

Abstract

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, SNCA and PARK2 could be the best candidates to analyze. Because analyzing brain tissues in living patients is impossible, alternative tissues could be used to indicate the genetic status of the brain. Performance of the technology is another factor to consider when analyzing the tissues.

Keyword

somatic mutation; somatic mosaicism; genetics; Parkinson disease

MeSH Terms

Brain
Cell Division
Central Nervous System
Dopaminergic Neurons
Fertilization
Genetics
Germ-Line Mutation
Humans
Mosaicism*
Neurodegenerative Diseases
Parkinson Disease*
Substantia Nigra