Variants in a newly discovered microprotein affected the risk of Alzheimer’s disease more than any other known risk variant besides ApoE. The protein, dubbed SHMOOSE by its discoverers, was identified in a mitochondrial-wide association study (miWAS). The researchers reported their findings in the Sept. 21, 2022, issue of Molecular Psychiatry. The newly identified variant is not rare – it occurs in about a quarter of the Caucasian population, slightly more than the ApoE4 allele. Its effects are also not subtle – in their paper, the team estimated that those with the high-risk variant SHMOOSED47N were roughly 30% more likely to develop AD than those without.
The mutant gene causing Huntington’s disease (HD) is active from the earliest stages of brain development, even though the pathology is not evident until between 30 and 50 years of age. That delay is ascribed to plasticity enabling the brain to compensate to such an extent that overt signs of disease take time to develop. As a result, it is difficult to plot a route from early molecular defects to development of HD several decades later.
First Health Pharmaceuticals BV has presented oxadiazole derivatives acting as DEAD box RNA helicase (DDX) inhibitors reported to be useful for the treatment of cancer.
The Centro Nacional de Investigaciones Oncológicas Carlos III (CNIO) has identified new imidazo[1,2-a]pyrazines acting as serine/threonine-protein kinase haspin (GSG2) inhibitors reported to be useful for the treatment of cancer.
Enanta Pharmaceuticals Inc. has presented heterocyclic compounds reported to be useful for the treatment of respiratory syncytial virus (RSV) and metapneumovirus (MPV) infections.
Shanghai Allygen Biologics Co. Ltd. has synthesized new antibody-drug conjugates (ADC) comprising antibodies targeting programmed cell death 1 ligand 1 (CD274; PD-L1) covalently linked to SN-38 through a linker and reported to be useful for the treatment of cancer.