martes, 5 de noviembre de 2019

A rare mutation could be protective against Alzheimer’s, case report finds

Morning Rounds
Shraddha Chakradhar

A rare mutation could be protective against Alzheimer’s, case report finds 

A rare gene variant known to help transport cholesterol around the bloodstream may play a role in protecting against Alzheimer’s disease, according to a new case report. A woman of Colombian descent with a genetic mutation known to cause early-onset Alzheimer’s lived into her 70s before she developed mild dementia, researchers said. And even though the woman had abundant amyloid plaques — thought to cause cognitive impairment — she had few signs of neurodegeneration. Sequencing her genome, researchers found that she has the "Christchurch mutation” in the APOE gene, which seems to prevent the death of neurons, even in a brain with a lot of amyloid. The finding is only based on this one case, which is “exceedingly uncommon and possibly unique,” researchers warn.

No hay comentarios: