Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked FMR1 Gene.
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ABSTRACT:
SUBMITTER: Nolin SL
PROVIDER: S-EPMC8198117 | biostudies-literature | 2021 May
REPOSITORIES: biostudies-literature
Publications
Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked <i>FMR1</i> Gene.
Nolin Sarah L SL Napoli Eleonora E Flores Amanda A Hagerman Randi J RJ Giulivi Cecilia C
International journal of molecular sciences 20210530 11
Fifty-five to two hundred CGG repeats (called a premutation, or PM) in the 5'-UTR of the <i>FMR1</i> gene are generally unstable, often expanding to a full mutation (>200) in one generation through maternal inheritance, leading to fragile X syndrome, a condition associated with autism and other intellectual disabilities. To uncover the early mechanisms of pathogenesis, we performed metabolomics and proteomics on amniotic fluids from PM carriers, pregnant with male fetuses, who had undergone amni ...[more]
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