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In the Media

article imageResearch Provides Hope To Parents Of Girls Suffering From Brain-Damaging Disease

By nidsjourno
Feb 8, 2007 in Health
There is hope for all the parents whose girls are suffering from autism-like disease called Rett Syndrome. Scottish researchers have conducted a new experiment on genetic mice that raise hopes that the brain damage caused by this disease is not permanent.
There is hope for all the parents whose girls are suffering from autism-like disease called Rett Syndrome. Scottish researchers have conducted a new experiment on genetic mice that raise hopes that the brain damage caused by this disease is not permanent.

However, the cure comes with a warning. Scientists are still not sure how to try this treatment in people suffering from this disease. Rett syndrome is a progressive neurological disorder that is more commonly found in girls than boys. The symptoms of this disorder are easily confused with those of cerebral palsy and the child suffers from learning disorders and a total inability to socialize.

Caused by a mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2), when it shuts off the brain cells don't die, but they don't keep developing. According to the work published Thursday by the journal Science, the scientists were facing the challenge whether switching that gene back on could restore neuronal function.

The Scottish researchers switched off MECP2 in mice by inserting a chemical roadblock into the gene that they could switch on and off with medication. With the gene being switched off, baby mice were unable to move and died within weeks. When the scientists attempted to switch on the gene back, it resulted in killing of half the mice, apparently by flooding their cells with too much of MECP2's protein. Hence they decided to try gain by gradually increasing gene activity and rescuing all but one mouse.

The video recording of the mice showed then moving around just like normal rodents thus signaling that the gene MECP2 could be switched back. However, scientists believe that the real test has to be in females where the mutated gene is carried on in just one of females' two X chromosomes. It provides them with some normal gene function so they don't show symptoms until they're older.

The Rett Syndrome Research Foundation, a parents' group that co-funded the research, now will push scientists to develop human treatments. The parents of girls suffering from this disease are hopeful now with the news findings.

Rett syndrome affects one in every 12,500 female live births. Most males with a pathogenic MECP2 mutation suffer from neonatal encephalopathy and die within a year or so of birth. Infants with Rett syndrome typically develop normally until they are 6-18 months old. Physioneurological development tends to plateau after this brief period of normal development, and is followed by deterioration of the high brain functions. Psychomotor and cognitive abilities rapidly decline between 1-2 years of age. Symptoms that develop are similar to those of autism, including mental retardation and poor growth. It is, hence, easy to mistakenly diagnose Rett syndrome for autism, or cerebral palsy.

article:110205:4::0
More about Rett, Syndrome, Disease, Scotland, Mental
 
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