Mental retardation cause detailed

Aug 15, 2006

European and U.S. studies describe a recurrent cause of mental retardation resulting from the deletion of a big segment of DNA from chromosome 17.

The deletion is associated with a region of DNA that is commonly carried in an inverted orientation by a large portion of the human population.

The deletion arises recurrently and accounts for roughly 1 percent of cases of mental retardation among the populations screened in three studies.

It seems to be found preferentially among children of individuals who carry one particular form of the inversion, which is common among Europeans, researchers said. Individuals carrying the deletion also show characteristic facial, behavioral and other clinical features, which should aid clinicians in diagnosing similar cases.

One of the deleted genes, MAPT, has been previously implicated as having a causal role in neurodegenerative disorders such as Alzheimer's and Parkinson's diseases. Loss of that gene is therefore a prime candidate for explaining some of the characteristic features associated with mental retardation.

The research -- conducted at the University Medical Center in Nijmegen, The Netherlands; Britain's University of Cambridge; and the University of Washington in the United States -- appears in the journal Nature Genetics.

Copyright 2006 by United Press International

Explore further: 2015 to ring in advances in prevention, interventional procedures, heart repair

add to favorites email to friend print save as pdf

Related Stories

Positioning enzymes with ease

Apr 11, 2011

Virtually all processes in the human body rely on a unique class of proteins known as enzymes. To study them, scientists want to attach these molecules to surfaces and hold them fast, but this can often be ...

Rett syndrome mobilizes jumping genes in the brain

Nov 17, 2010

With few exceptions, jumping genes-restless bits of DNA that can move freely about the genome-are forced to stay put. In patients with Rett syndrome, however, a mutation in the MeCP2 gene mobilizes so-called ...

Recommended for you

Ebola expert calls for European anti-virus 'corps'

2 hours ago

Europe will be "vulnerable" if it does not regard viruses as a "national security issue" like the United States, the microbiologist who discovered Ebola said in an interview published Friday.

In Liberia, Ebola steals Christmas

2 hours ago

The Ebola epidemic has cast a dark shadow over Christmas this year in Liberia, where small businesses are especially feeling the pinch.

'Tis the season to overeat

21 hours ago

(HealthDay)—Overeating is common during the holidays, but there are strategies that can help you eat in moderation, an expert says.

User comments : 0

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.