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Gene Mutation Tied to Majority of Cases of Mental Retardation
Date:2/4/2009

Finding might lead to better diagnosis and drug treatments, study says

WEDNESDAY, Feb. 4 (HealthDay News) -- Children who have the most common form of mental retardation -- called nonsyndromic mental retardation -- appear to have a genetic mutation that may contribute to the condition, new research finds.

What's unusual about the mutation is that it occurs during development of the child and is not passed on by the child's parents, the researchers said.

"Nonsyndromic mental retardation is a very common problem -- it involves about 3 percent of the population," said lead researcher Dr. Jacques L. Michaud, of the Center of Excellence in Neuromics at the University of Montreal in Canada. "It is the most common mental handicap in children."

Children and adults who have nonsyndromic mental retardation have no physical abnormality, they look like any other child or adult, but they nonetheless have the condition, Michaud said.

"We have good reason to think genes are the cause of this syndrome," he said.

The findings were published in the Feb. 5 issue of the New England Journal of Medicine.

For the study, Michaud and his colleagues zeroed in on the SYNGAP1 gene -- which produces a protein critical for learning and memory -- in 94 patients with nonsyndromic mental retardation. The researchers identified mutations in the gene in three children.

These are new mutations, Michaud said. "Mutations you find in the kids, but you don't find in the parents," he said. "The mutation arises in the development of the kid."

The mutations involve the brain, especially those areas that affect the development, function and connection between neurons, Michaud said.

The researchers then looked for the same mutations in 142 people with autism, 143 people with schizophrenia and 190 healthy people. None of these people had the mutations associated with nonsyndromic mental retardation, the researchers said.

One important aspect of this finding is that it explains the origins of nonsyndromic mental retardation, Michaud said. "For a lot of families, not having an explanation makes it difficult to accept the condition. Having an explanation helps them to better accept the condition," he said.

The finding should also reassure parents that the condition isn't inherited, he said.

Michaud thinks the finding may lead to the development of new methods to teach children with nonsyndromic mental retardation. And a long-term goal is to develop medications that would help these children, in much the same way that ADHD can be treated with drugs, he said.

Dr. Randi Hagerman, a professor of pediatrics and medical director of the M.I.N.D. Institute at the University of California, Davis, thinks the finding is important, because it could lead to better diagnosis and possibly treatment of the condition.

"This is an important paper, because it represents about 3 percent of nonsyndromic mental retardation," Hagerman said. "This suggests that more screening for this mutation should be done in the workup of patients," he said.

More information

To learn more about mental retardation, visit the Nemours Foundation.



SOURCES: Jacques L. Michaud, M.D., Center of Excellence in Neuromics, University of Montreal, Quebec, Canada; Randi Hagerman, M.D., professor of pediatrics, and medical director, M.I.N.D. Institute, University of California, Davis; Feb. 5, 2009, New England Journal of Medicine


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