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Tay-Sachs: Canadian Research Suggests Drugs to Mitigate Symptoms Of Deadly Disease

06/06/2013 05:46 EDT | Updated 08/06/2013 05:12 EDT
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UNITED STATES - SEPTEMBER 09: A baby with Tay-Sachs disease rests in her hospital crib, New York City, New York (Photo by Bruce Dale/National Geographic/Getty Images)
TORONTO - New research from McMaster University may offer some hope for the parents of children with fatal Tay-Sachs disease.

The work points to drugs that may help mitigate the symptoms of the genetic condition, which kills sufferers while they are still young children.

The lead author of the research says it would not be a cure, but might prolong the lives of children with Tay-Sachs and a related condition called Sandhoff and improve their quality of life.

Suleiman Igdoura, a professor of biology at McMaster in Hamilton, says the beauty of this discovery is that drugs which address the mechanism his work identified have already been tested and approved by regulators for other conditions.

That means there is no need to go to the drawing board to design a new drug to target this disease pathway.

Working with genetically modified mice, Igdoura and his team found that if a key protein in the brain is removed some of the devastating symptoms of Tay-Sachs and related diseases are much less severe.

"If we can improve their lives and facilitate a few years of life, I think that's important," he says.

The work was published in the journal Human Molecular Genetics.

Tay-Sachs is a genetic condition that develops in children born to parents who are both carriers of the disease. It is found all over the world, but rates are particularly high among French Canadians from Quebec and Ashkenazi Jews.

Children with the condition appear normal in the first months of their lives. But they lack the ability to clear their cells of a fatty substance and the material accumulates, eventually causing cell death. The first cells it affects are those of the central nervous system.

By the age of six to eight months, children with this condition start to show signs of their illness. They become progressively worse, losing their sight and becoming deaf. Their muscles atrophy and they suffer from seizures. They generally die by about the age of four.

Igdoura and his team discovered that large amounts of an immune system protein that serves as an early warning system for disease are produced in this illness. So they bred their Tay-Sachs mice to not produce this protein, which is called TNF-alpha.

The mice lived longer and functioned better, he says, adding he thinks the gains might equate to several years of life.

Drugs to tamp down TNF-alpha production are already licensed and in use for rheumatoid arthritis, for instance, Igdoura says. He expects doctors who care for children with Tay-Sachs may try the drugs in these patients.

An expert from Toronto's Hospital for Sick Children called the work well done and important. But Dr. Ronald Cohn, co-director of the hospital's centre of genetic medicine and chief of the division of clinical and metabolic genetics, says he'd prefer to see TNF-alpha antagonist drugs tested in the genetically modified mice before doctors start using them in children.

Cohn says it is known that sometimes the outcome one sees from using a drug to inhibit production of a protein is not identical to the effect one sees by modifying genes to block production of the same substance.

"I would want to see that it has some potential beneficial effect on the mouse. And I'm not talking about expecting any miracle results. But I would want to see that using the drug in the mouse model would provide some benefit," Cohn says.

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