CELL: Is the cause of cell metabolic abnormalities in brittle X syndrome revealed?

Brittle X syndrome (FXS) is a devastating X-series genetic disorder and the most common genetic cause of intellectual disability.
it is caused by the loss of expression of the brittle X mentally retarded protein (FMRP) due to repeated amplification of CGG in the Fmr1 gene.
FX esoteric features increased composition of mRNA translation rates, immature forms of synapses and synapses, abnormal synapse plasticity, neuro-excitement toxicity, and increased neuro-excitement.
's previous studies have shown that the depletion of Fmr1 and its congener Fxr2 reduces fat deposits in mutant mice and leads to higher food intake, increased oxygen consumption in mice, and carbon dioxide production, suggesting that phosphate oxide in mutant mice is uncoupling.
in people with autism spectrum disorders, the researchers also observed elevated lactic acid levels, indicating an increase in mitochondrial dysfunction-driven glycolysis.
mitochondrial is a necessary condition for normal synapse formation, so the mitochondrial itself will develop plasticity, mitochondrial structure and function will change greatly during development.
recently, researchers published a paper in the journal CELL describing neurons in Fmr1-/y mice with mitochondrial membrane leakage that leads to 'leakage metabolism'.
In human brittle X syndrome (FXS) fibroblasts and Fmr1-/y mouse neurons, the atTP synthase leakage channel is closed by mild exhaustion of its c sub-base or drug inhibition, which normalizes stimulation-induced and component mRNA translation rates, reduces lactic acid and critical glycolytic acid and triacetic acid (TCA) cyclase levels, and triggers synaptic maturation.
FMRP regulates atTP synthase leakage channel closure in wild type (WT) synapses by stimulating dependent ATP synthase beta subkey translation, but there is no corresponding mechanism in FXS synapses.
attogenetic attase beta sub-base translation increases the ratio of ATP synthase to c sub-base, thus increasing ATP productivity and synaptic growth.
, in FXS, the inability to shut down the leakage of the development c sub-base prevents the maturation of stimulating dependent synapses.
, the study found that membrane leakage in the mitochondria of FXS neurons and cells was caused by abnormal levels of ATP synthase c sub-base.
c sub-base leakage leads to the continued presence of mitochondrial leakage metabolic esophation, characterized by high glycolysis 1x, high lactic acid levels, and increased levels of glycolysis and TCA enzymes.
leakage also abnormally increases the synthesis of whole and specific proteins.
the ATP synthase c sub-base leak can promote development and reduce autism behavior.
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