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Specific PHGKB|Neurological Disorders PHGKB|PHGKB

Last Posted: Nov 22, 2022
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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege Henne et al. Nature genetics 2022 11

We compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals—16,036 AD cases and 16,522 controls. Next to variants in TREM2, SORL1 and ABCA7, we observed a significant association of rare, predicted damaging variants in ATP8B4 and ABCA1 with AD risk, and a suggestive signal in ADAM10. Additionally, the rare-variant burden in RIN3, CLU, ZCWPW1 and ACE highlighted these genes as potential drivers of respective AD-genome-wide association study loci.

Alzheimer’s risk variant APOE4 linked to myelin-assembly malfunction
K Carlstrom et al Nature, November 16, 2022

In humans, APOE is encoded by the APOE gene, which can exist as different variants. The protein translated from the APOE4 variant differs from the APOE3 product in the substitution of one amino-acid residue. But this simple change renders APOE4 dysfunctional10, and people who carry APOE4 are more susceptible to developing Alzheimer’s disease than are those who do not. Exactly how APOE4 contributes to disease progression is unclear, although several mechanisms have been proposed. It emerges that this might be due to decreased production of a fatty substance called myelin by oligodendrocyte cells.

Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis
R Stevelink et al, EBiomedicine, November 11, 2022

We found nine independent predictors of drug resistance: three seizure types, psychiatric comorbidities, catamenial epilepsy, epileptiform focality, ethnicity, history of CAE, family history of epilepsy, status epilepticus, and febrile seizures. Internal-external cross-validation of our multivariable model showed an area under the receiver operating characteristic curve of 0·70 (95%CI 0·68–0·72). Recurrence of seizures after ASM withdrawal (n = 368) was predicted by an earlier age at the start of withdrawal, shorter seizure-free interval and more currently used ASMs.

Dementia risk variants - hunting needles in a haystack.
Oatman Stephanie R et al. Nature reviews. Neurology 2022 11

Genome-wide association studies have identified loci associated with neurodegenerative disease risk, but many of the implicated genetic variants are noncoding and their functional roles remain unclear. Using massively parallel reporter assays, CRISPR-based validation and genomic annotations, a new study functionally characterizes regulatory risk variants associated with Alzheimer disease and progressive supranuclear palsy.

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