Doctors successfully screen embryos for gene mutation linked to early onset Alzheimer'sBMJ 2002; 324 doi: https://doi.org/10.1136/bmj.324.7337.564/a (Published 09 March 2002) Cite this as: BMJ 2002;324:564
- Deborah Josefson
A 30 year old woman with a genetic disorder linked to early onset of Alzheimer’s disease has become the first to successfully undergo in vitro fertilisation with preimplantation genetic diagnosis of the embryos to avoid passing the defect on to her children (JAMA 2002;287:1018-21).
The report of this successful screening sparked concerns about eugenics and renewed the ethical debate about the propriety of using such technologies to screen out mutations that manifest in adulthood.
The woman, who is asymptomatic, is a geneticist. She carried a mutation in the amyloid precursor protein (APP) gene. The mutation, which involves a single nucleotide substitution causes build-up of amyloid plaque in the brain and confers a nearly 100% probability that the carrier will manifest symptoms of Alzheimer’s disease by the age of 40.
The patient …
Log in using your username and password
Log in through your institution
Register for a free trial to thebmj.com to receive unlimited access to all content on thebmj.com for 14 days.
Sign up for a free trial