April 27 2023
Posted June 8, 2012
The New York Times Magazine appearing on Sunday, June 10, 2012, and available now online, carries a powerful narrative of a family’s journey through the tragedy of early-onset Alzheimer’s. It is a great contribution to Alzheimer’s awareness and the need for more research to end this disease, and a reinforcement of the priorities that the director of the National Institutes of Health has put on genetic research into the origins of Alzheimer’s.
There are, however, several inaccuracies in the article which, while not detracting from the power of the story, do warrant correction.
First is a sentence early in the article that says, “Though as much as 99 percent of all Alzheimer’s cases are not a result of a known genetic mutation, researchers have determined that the best place to find a treatment or cure for the disease is to study those who possess a mutation that causes it.”
The statement more accurately should have been:
“Though as much as 99 percent of all Alzheimer’s cases are not a result of known early-onset gene mutations……”
This is a very important distinction. While those carrying one of three early-onset genes (APP, Presenilin 1 and Presenilin 2) are essentially guaranteed to get the disease, the number of those people within the Alzheimer’s population is very small. However, there are many other genes that researchers have determined that contribute to risk for or protection against regular or “sporadic” Alzheimer’s. Dr. Tanzi’s lab at Massachusetts General Hospital, with exclusive support from Cure Alzheimer’s Fund, has identified more than 100 of these Alzheimer’s gene candidates.
Second, the article indicates that the first of these early-onset genes, APP, was found by Dr. Alison Goate in 1991. In fact, this gene, the first early-onset Alzheimer’s gene, was discovered by Dr. Tanzi and colleagues in 1987 as documented in Science. Dr. Goate later made an important discovery of an Alzheimer’s mutation in this gene in 1991.
Third, the article states that the gene causing Alzheimer’s in the family that serves as the focus of the article was discovered by their neurologist, Dr. Thomas Bird at the University of Washington. In fact, Dr. Bird collected the blood samples from the family and sent them to Dr. Tanzi’s lab in Boston and another lab in Washington for analysis. It was Tanzi and colleagues that found and first reported the early-onset gene and mutation (Presenilin 2) underlying early-onset Alzheimer’s disease in the family that is the focus of the article. His discovery was published in Science in 1995, http://www.jstor.org/stable/2887712.
These errors notwithstanding, the article rightly documents the suffering of Alzheimer’s, in this case early-onset Alzheimer’s, and the progress being made to end it with the correct emphasis on the importance of understanding the genetic factors responsible for the origins of the disease.
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