Easter Island Fungus May Provide Cure for Genetic Disease

This article is from the archive of The New York Sun before the launch of its new website in 2022. The Sun has neither altered nor updated such articles but will seek to correct any errors, mis-categorizations or other problems introduced during transfer.

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A drug isolated from a fungus found on Easter Island is offering new hope to thousands of people who suffer the misery of a genetic disease that makes tumors grow throughout the body, a conference was told.


Tuberous sclerosis affects one in 7,000 babies and, although the tumors are usually benign, it can cause a wide spectrum of problems including epilepsy, learning difficulties, behavioral problems, and lung and kidney complications.


Given the promise shown by the new drug, the Tuberous Sclerosis Association in England is racing to raise more than $700,000 for a British trial on 30 adults. Half the money is needed for the drug alone.


The genes responsible, called TSC1 and TSC2, defied identification until six British, Dutch, and American teams collaborated and reported success in 1993 and 1997.


By understanding the metabolic pathway disrupted when these genes are faulty or missing, scientists realized that a drug called Rapamycin (sirolimus), isolated from a fungus in an Easter Island soil sample in the 1970s and used to stop organ rejection, could fix the damage.


The proteins from TSC1 and TSC2 link up to form a “brake” on a pathway that controls cell growth. When they are missing, cell growth continues unabated, forming tumors. Scientists discovered the same pathway is also regulated by Rapamycin, via a protein called mTOR, suggesting that the drug could combat growths.


Preliminary data from an American trial and ad hoc use on a patient in Germany were discussed at the Tuberous Sclerosis Complex International Research Conference and suggested that Rapamycin showed promise in halting tumor growth. “We have found that a drug that has been sitting around for years is a clear candidate treatment,” said Julian Sampson of the Institute of Medical Genetics at Cardiff University.


“In a small number of patients, there is news of interesting and promising results. And it has already been shown to shrink tumors in animals with an equivalent disease,” he added.


The drug has known effects on the immune system and is linked with side effects such as elevated blood cholesterol and fat. The idea is first to test the drug on adult sufferers who are mentally competent and have serious manifestations in the kidney and lung.


Ann Hunt, the head of research at the Tuberous Sclerosis Association, said: “With Rapamycin there is a hope that we have leapt straight to the Holy Grail of an effective treatment for tuberous sclerosis, one which is already used safely in thousands of other patients.”


Tuberous sclerosis has many effects, depending on where the tumors grow in the body. Growths in the kidneys, brain, or lungs can be causes of early death. Those in the brain cause epilepsy, attention problems, and learning difficulties.


Of all the disorders linked with autism, tuberous sclerosis has the strongest correlation, said Mr. Sampson.


“More than a third of children with tuberous sclerosis fulfill diagnostic criteria for autism,” he said.


Although the development of autism is thought to be linked to tumor growth in the nervous system, the link is not clear. By investigating this further, Mr. Sampson said it is hoped light will be shed on one cause of autism, a developmental disorder than probably has many causes.

NY Sun
NEW YORK SUN CONTRIBUTOR

This article is from the archive of The New York Sun before the launch of its new website in 2022. The Sun has neither altered nor updated such articles but will seek to correct any errors, mis-categorizations or other problems introduced during transfer.


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