Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins
نویسندگان
چکیده
منابع مشابه
Maternal FMR1 premutation allele expansion and contraction in fraternal twins.
Fragile X syndrome results from an expansion of the CGG trinucleotide repeat in the 5' untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene. Expansion of a maternal premutation allele is the mechanism by which a full mutation allele arises; contraction of a maternal premutation allele is rare. Here we report on both an expansion and contraction of a maternal FMR1 premutation al...
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Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding
Fragile X premutation alleles have 55-200 CGG repeats in the 5' UTR of the FMR1 gene. Altered zinc (Zn) homeostasis has been reported in fibroblasts from >60 years old premutation carriers, in which Zn supplementation significantly restored Zn-dependent mitochondrial protein import/processing and function. Given that mitochondria play a critical role in synaptic transmission, brain function, an...
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2018
ISSN: 1664-8021
DOI: 10.3389/fgene.2018.00338