Mental retardation cause detailed

August 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: Two genetic deletions in human genome linked to aggressive prostate cancer development

Related Stories

Study implicates glial cells in fragile X syndrome

October 4, 2016

Research on fragile X syndrome, the most common inherited cause of mental retardation, has focused mostly on how the genetic defect alters the functioning of neurons in the brain. A new study focusing on a different type ...

Where does innate fear come from?

January 23, 2017

The 20th century has seen an explosion of scientific efforts made to reveal the biological substrates of cognitive functions. Emotions and cognitive processes interact to build up complex behavioural responses and to drive ...

Recommended for you

A turbo engine for tracing neurons

April 27, 2017

Putting a turbo engine into an old car gives it an entirely new life—suddenly it can go further, faster. That same idea is now being applied to neuroscience, with a software wrapper that can be used on existing neuron tracing ...

Mouse teeth providing new insights into tissue regeneration

April 27, 2017

Researchers hope to one day use stem cells to heal burns, patch damaged heart tissue, even grow kidneys and other transplantable organs from scratch. This dream edges closer to reality every year, but one of the enduring ...

0 comments

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.