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Somatic instability of CTG repeats in the cerebellum of myotonic dystrophy type 1
Author(s) -
Jinnai Kenji,
Mitani Maki,
Futamura Naonobu,
Kawamoto Kunihiko,
Funakawa Itaru,
Itoh Kyoko
Publication year - 2013
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23717
Subject(s) - myotonic dystrophy , cerebellum , trinucleotide repeat expansion , biology , somatic cell , cerebellar hemisphere , dentate nucleus , deep cerebellar nuclei , cerebellar cortex , anatomy , pathology , neuroscience , medicine , genetics , allele , gene
: We statistically analyzed somatic instability of the CTG expansion in the central nervous system and visceral organs in 7 patients with myotonic dystrophy type 1 and also report intracerebellar instability in 2 patients. Methods : CTG repeat expansion was estimated in the samples from autopsied brains and visceral organs by Southern blot analysis. Pathological study was performed. Samples were taken from several sites in the cerebellum to examine intracerebellar instability. Results : The CTG repeat expansion was shortest in the cerebellar cortex among all tissues examined. With regard to the intracerebellar difference, the shortest expansion was seen in the cortices of the hemisphere and vermis, whereas it was moderate in the dentate nucleus and longest in the white matter of the hemisphere and middle cerebellar peduncle. Conclusions : The shortest expansion might be attributable to packed granule cells in the cerebellar cortex. Further analysis of cell‐specific methylation states might elucidate the enigma of somatic instability. Muscle Nerve, 2013