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- W2057477311 abstract "The relationship between cholesterol metabolism and cognition is brought into focus by Gregor et al. in this issue (Hum Mutat 35:1495–1505). A de novo duplication of the GPM6A gene on chromosome 4q was observed by these authors in a patient with intellectual disability and behavioral problems. The gene, coding for a member of the proteolipid protein family, was overexpressed in the patient, whereby cholesterol synthesis enzymes were decreased. Abnormal features observed in mutant flies and in the cell membrane of the patient´s lymphoblasts were rescued with cholesterol supplementation. This study further highlights the importance of sterol homeostasis for the central nervous system. The lipid storage disease Niemann-Pick type C and cerebrotendinous xanthomatosis are additional examples where inborn enzyme defects of cholesterol metabolism lead to neurodegeneration. Interestingly, low total cholesterol levels have been associated with slower mental processing and with cognitive decline in the elderly. Abnormal brain sterol content has also been linked with the pathogenesis of neuropsychiatric diseases like Rett syndrome and Huntington disease, while there are data suggesting a role of cholesterol in autism spectrum disorders. Thus, there is increasing evidence that keeping a balanced sterol turnover is essential for the brain, where cholesterol is not only crucial for energy production, but also for the structure and permeability of cell membranes, vesicular trafficking across the cytosol, synaptic plasticity and signal pathways. While high total cholesterol is an established risk factor for atherosclerosis, the relationship between plasma sterols and neurodegenerative diseases – which might point to new therapeutic approaches – remains to be elucidated." @default.
- W2057477311 created "2016-06-24" @default.
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- W2057477311 date "2014-11-24" @default.
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- W2057477311 title "Cholesterol and Cognition: A Question of Balance?" @default.
- W2057477311 doi "https://doi.org/10.1002/humu.22423" @default.
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