Hypothesis: Somatic Mosaicism and Parkinson Disease
Experimental Neurobiology
;
: 271-276, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-113797
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doença de Parkinson
/
Encéfalo
/
Substância Negra
/
Divisão Celular
/
Sistema Nervoso Central
/
Mutação em Linhagem Germinativa
/
Doenças Neurodegenerativas
/
Fertilização
/
Neurônios Dopaminérgicos
/
Genética
Limite:
Humanos
Idioma:
Inglês
Revista:
Experimental Neurobiology
Ano de publicação:
2014
Tipo de documento:
Artigo
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