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.
A series of novel tacrine derivatives acting as acetylcholinesterase inhibitors and N-methyl-D-aspartate (NMDA) receptor subtype antagonists has been developed in research seeking to exploit these targets for the treatment of Alzheimer's disease.
Researchers from the U.K. have investigated the specificity and sensitivity of clonidine growth hormone (GH) as a biomarker for the differential diagnosis of multiple system atrophy (MSA) from pure autonomic failure (PAF), Parkinson’s disease (PD) and progressive supranuclear palsy (PSP).
Iama Therapeutics Srl has sought new, selective inhibitors of solute carrier family 12 member 2 (NKCC1) to treat autism, Down syndrome and brain disorders featuring chloride (NKCC1/solute carrier family 12 member 5 [KCC2]) imbalance.