Researchers Discover Second Gene Linked to a Rare Tumor Disease

Researchers have found a second gene for tuberous sclerosis, a rare genetic condition that causes tumors all over the body.

About 1 of every 6,000 babies is born with the condition, which can lead to epilepsy, learning difficulties, autism and kidney and skin disease.

Reporting Friday in the journal Science, a team of European and U.S. researchers said the discovery of the second gene could lead to a test for the disorder.

The first gene, TSC2, was discovered in 1993 and accounts for half the cases of the disease. But researchers could not track down a second possible gene, dubbed TSC1, despite 10 years of efforts.

However, members of the international team from Erasumus University in the Netherlands, University College in London, the Whitehead Center for Genome Research in Cambridge, Mass., and other centers said they had finally found it.

They had sequenced the gene--identified every constituent amino acid--as part of the Human Genome Project mapping the genes in the human body.

“At present we do not understand how either TSC1 or TSC2 work, but they certainly control the growth of tumors in these patients, and seem to form a previously unknown pathway of growth control which could be relevant to other tumors and to normal development,” the researchers said in a statement.

Some sort of therapy could be found, they added.

Stephen Stirk, chairman of the British-based Tuberculosis Sclerosis Assn, said, “It is a significant breakthrough which will really make a difference to [patients’] lives.”