TORONTO - Canadian researchers have used the power of genomics to identify the cause of a rare Parkinson's-like disease in children of one extended family and come up with a treatment to help reverse its effects.

It's believed to be the first time a new disease has been discovered, its cause figured out and a treatment successfully determined in such a short time, in this case about two years.

The eight children five boys and three girls born to four sets of parents in a large Saudi Arabian family were born with symptoms similar to those experienced by adults with Parkinson's disease, said principal researcher Dr. Berge Minassian, a neurologist at Toronto's Hospital for Sick Children.

"They're very interesting, they're like little babies with Parkinson's disease," said Minassian, explaining that the children exhibited typical symptoms of the neurological disorder, including tremors, problems executing movements, and the flat facial expression known as a "masked face."

"Those kids are like that. They cry, but you don't see them cry," he said.

Dr. Reem Alkhater, a pediatric neurology resident at the hospital, has been travelling back and forth between Toronto and Saudi Arabia as part of the research team's investigations into the familial disorder.

The children are part of an unidentified family of Bedouin ancestry living in a western Saudi city whose members had intermarried through several generations. Known as consanguineous marriages, the offspring of such unions have a one in four chance of inheriting mutated genes if they are carried by both parents.

"When you have consanguinity, then you end up with problems where you get the bad copy from each side because the two sides are related," said Minassian. "In this case, consanguinity played a role in these children being sick and having this autosomal recessive disease."

Using genomic sequencing, the Toronto scientists pinpointed a common mutated gene among the children, known as SLC18A2. (The genome is all the genetic material in a person or any other organism.)

The gene, which is involved in the production of the brain chemicals dopamine and serotonin, had a single genetic-letter misprint, which dramatically reduced its function and produced the Parkinson's-like disorder, he said.

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Researchers pinpoint gene behind rare disorder in kids, treat successfully

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