'Christchurch mutation' may protect people at risk of early-onset Alzheimer's disease

Embargoed until: Publicly released: 2024-06-20 07:00

New Zealand; International

Photo by Sangharsh Lohakare on Unsplash

A rare gene mutation first identified decades ago in Christchurch is now being studied in a large family of more than 6000 blood relatives in Colombia. More than 1000 members of this family are carriers of a gene that causes Alzheimer's, with most of them developing mild cognitive impairment in their mid-forties and dementia in their late forties. However, people who also have the Christchurch mutation seem to have some protection - a woman with two copies of the mutation did not develop mild cognitive impairment until her 70s. Now, new research has shown that people with one copy of the gene may delay the onset of cognitive impairment by about five years. The authors say more research is needed to find out if this protective effect is seen more widely, and not just in this family.

Media release

From:

Journal/
conference: New England Journal of Medicine

Research:Paper

Organisation/s: Massachusetts General Hospital, USA

Funder: Supported by grants from Open Philanthropy and Good Ventures (to Drs. Krasemann and Sepulveda-Falla and to Dr. Arboleda-Velasquez), by the Remondi Family Foundation (to Dr. Arboleda-Velasquez), by grants (R01AG054671, to Dr. Quiroz; RF1AG077627, to Drs. Quiroz and Lopera; K99AG073452, to Dr. Vila-Castelar; and P30AG072980, to Dr. Reiman) from the National Institute on Aging (NIA), by the Massachusetts General Hospital (MGH) Executive Committee on Research (MGH Research Scholar Award, to Dr. Quiroz), by the Alzheimer’s Association (to Dr. Quiroz), by a grant (RM1NS132996, to Drs. Quiroz, Lopera, and Arboleda-Velasquez) from the National Institute of Neurological Disorders and Stroke (NINDS), by the National Institutes of Health (to Dr. Lopera), by Roche (to Dr. Lopera), by the Banner Alzheimer’s Foundation for the Alzheimer’s Prevention Initiative Colombia Registry and the Alzheimer’s Prevention Initiative (API) and the API ADAD Colombia Trial (to Drs. Reiman and Lopera), by a joint grant (RF1NS110048, to Dr. Sepulveda-Falla) from NINDS and NIA, by a grant from the Werner Otto Foundation (to Drs. Krasemann and Sepulveda-Falla), by the German Federal Ministry of Education and Research (UndoAD-Project, to Drs. Glatzel and Sepulveda-Falla), by grants (KR 1737/2-1, to Dr. Krasemann; and SFB877, to Dr. Glatzel) from the German Research Foundation, by an Alzheimer’s Association Research Fellowship (to Dr. Langella), and by the NOMIS Foundation (to Dr. Reiman).

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