Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome.
Am J Med Genet
; 84(3): 233-9, 1999 May 28.
Article
em En
| MEDLINE
| ID: mdl-10331599
ABSTRACT
Few studies have been conducted comparing the FMR1 mutation in multiple tissues of individuals affected with fragile X syndrome. We report a postmortem study of the FMR1 mutation in multiple tissues from a high-functioning male with fragile X syndrome. This man was not mentally retarded and had only a few manifestations of the disorder such as learning disabilities and mild attention problems. Southern blot analysis of leukocytes demonstrated an unmethylated mutation with a wide span of sizes extending from the premutation to full mutation range. A similar pattern was seen in most regions of the brain. In contrast, a methylated full mutation of a single size was seen in the parietal lobe and in most non-brain tissues studied. Therefore, there were striking differences in both FMR1 mutation size and methylation status between tissues. Lack of mental retardation in this individual may have been due to sufficient expression of FMR1 protein (FMRP) in most areas of the brain. Immunocytochemistry showed FMRP expression in regions of the brain with the unmethylated mutation (superior temporal cortex, frontal cortex, and hippocampus) and no expression in the region with the methylated full mutation (parietal). Neuroanatomical studies showed no dendritic spine pathology in any regions of the brain analyzed.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação a RNA
/
Síndrome do Cromossomo X Frágil
/
Proteínas do Tecido Nervoso
Limite:
Aged
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1999
Tipo de documento:
Article