January 3, 1996
Treatment proven effective for severe form of rare disease
TORONTO - Sometimes you have to wait 30 years to learn if your discovery is really making a difference in a patient's life. The waiting is finally over for Dr. Bibudhendra (Amu) Sarkar of The Hospital for Sick Children (SickKids), as confirmed by a report in the January issue of Nature Genetics.
Back in 1966 Sarkar - who is head of Biochemistry Research at the SickKids Research Institute and Professor of Biochemistry, University of Toronto - and his colleagues in the biochemistry research laboratory discovered copper-histidine, a substance which occurs naturally in the body and enables cells to absorb copper, an essential component of many enzymes that are important for neurologic functioning. In 1976, Sarkar and the late Dr. Andrew Sass-Kortsak decided to use copper-histidine as a treatment for Menkes Disease, a fatal genetic neurological disorder which prevents the body from absorbing copper from food. Children with Menkes Disease die before the age of three.
"We knew almost immediately after giving the treatment that it was effective," explains Sarkar. "What we didn't know was how desperately the patients needed it."
Menkes Disease appears in several forms and at the time of the new treatment it was impossible to tell how severely the patient was affected. But in 1993 the Menkes Disease gene was identified, making it possible to test patients for the genetic mutation and determine if they have a mild or severe form of the disease.
"What we can now say conclusively is that the treatment is effective even for patients with the most lethal form of the disease," says Sarkar.
Copper-histidine treatment is now used in Menkes patients throughout the world.
Two Canadian patients with Menkes disease received copper-histidine treatment through The Hospital for Sick Children. One, at age 19, is the world's longest surviving Menkes patient. Both patients have the most severe form of the Menkes gene mutation and would not have survived without the treatment.
Characterization of the genetic defects in the Canadian patients mentioned above was a collaborative project which also involved Dr. Joe Clarke in the Department of Clinical Genetics at The Hospital for Sick Children, and researchers in Denmark and Australia.
Sarkar's research in copper-histidine was supported by the Medical Research Council of Canada and the Lunenfeld Charitable Foundation.
For more information, please contact:
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