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Dr [Leanne Dibbens] said their discovery would enable families affected by EFMR to benefit from genetic counselling, including screening for the genetic mutation at pregnancy. Ultimately she hopes to find a cure for the condition using gene therapy.
Women in families affected by EFMR carry both a "good" gene and a mutated gene, while the males carry only the mutated gene.
"Part of the gene family involved in this disease may also be found in more common forms of epilepsy and mental retardation, so it potentially opens up a whole field of research looking at conditions that affect many people worldwide," Dr Dibbens said.
AUSTRALIAN scientists have played a vital role in the discovery of a mutant gene linked to a rare condition that causes epilepsy and mental retardation in women.
The condition, known as EFMR, is found only in particular families and among women.
The new research has for the first time linked a large family of genes known as protocadherins to the condition, the cause of which has never been understood before.
In one of the families studied, 23 women were affected by the disorder across five generations.
Girls with the condition appear normal at birth but start having seizures at about one year of age. Their development then becomes slowed and they grow up to be intellectually disabled, with some unable to feed or dress themselves.
Because EFMR combines the relatively common ailments of epilepsy and mental retardation, the research has implications for millions of sufferers worldwide.
The study, published today in the journal Nature Genetics, shows that although men carry the mutant gene, only women are affected.
The research was led by Dr Leanne Dibbens and Associate Professor Jozef Gecz from the Women's and Children's Hospital in Adelaide and the University of Adelaide.
The discovery of the mutant gene was the result of collaboration by experts from around the world, including scientists at the Sanger Institute and theWellcome Trust in Britain, and other researchers in Melbourne, the US, Ireland and Israel.
Dr Dibbens said their discovery would enable families affected by EFMR to benefit from genetic counselling, including screening for the genetic mutation at pregnancy. Ultimately she hopes to find a cure for the condition using gene therapy.
Women in families affected by EFMR carry both a "good" gene and a mutated gene, while the males carry only the mutated gene.
For reasons still unknown, men remain unaffected by the condition. "We suspect this may have something to do with the male Y chromosome, but more research will be needed to find out exactly how or why," Dr Dibbens said.
She said the gene involved in the discovery was important for cell-to-cell communication in the brain, and could also hold the key to better understanding of related issues such as autism and obsessive disorders.
"Part of the gene family involved in this disease may also be found in more common forms of epilepsy and mental retardation, so it potentially opens up a whole field of research looking at conditions that affect many people worldwide," Dr Dibbens said.
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