Hypothesis: Somatic Mosaicism and Parkinson Disease
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...
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The Korean Society for Brain and Neural Science
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276799/ |
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pubmed-42767992014-12-29 Hypothesis: Somatic Mosaicism and Parkinson Disease Kim, Han-Joon Jeon, Beom S. Review Article 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. The Korean Society for Brain and Neural Science 2014-12 2014-12-12 /pmc/articles/PMC4276799/ /pubmed/25548528 http://dx.doi.org/10.5607/en.2014.23.4.271 Text en Copyright © Experimental Neurobiology 2014. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Kim, Han-Joon Jeon, Beom S. |
| spellingShingle |
Kim, Han-Joon Jeon, Beom S. Hypothesis: Somatic Mosaicism and Parkinson Disease |
| author_facet |
Kim, Han-Joon Jeon, Beom S. |
| author_sort |
Kim, Han-Joon |
| title |
Hypothesis: Somatic Mosaicism and Parkinson Disease |
| title_short |
Hypothesis: Somatic Mosaicism and Parkinson Disease |
| title_full |
Hypothesis: Somatic Mosaicism and Parkinson Disease |
| title_fullStr |
Hypothesis: Somatic Mosaicism and Parkinson Disease |
| title_full_unstemmed |
Hypothesis: Somatic Mosaicism and Parkinson Disease |
| title_sort |
hypothesis: somatic mosaicism and parkinson disease |
| description |
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. |
| publisher |
The Korean Society for Brain and Neural Science |
| publishDate |
2014 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276799/ |
| _version_ |
1613170723780558848 |