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 Sunday, 12 January, 2003, 00:07 GMT
Cancer's unexpected line of attack
Gene analysis
Genetic analysis revealed surprising results
Scientists examining a rare genetic syndrome have discovered that some types of cancer may have an unexpected cause.

They believe their discovery could lead to new treatments for the disease.

The researchers, from Memorial Sloan-Kettering Cancer Center in New York, examined a condition called Dyskeratosis Congenita (DC).

This is the first example that shows that a defect in ribosome function may cause cancer

Dr Davide Ruggero
DC is an extremely rare, but deadly disease that results in premature aging, severe anaemia due to bone marrow failure, breakdown of the nails, loss of skin pigmentation and cancer.

By using genetic engineering techniques to create mice with DC, they found that the condition appears to be linked to a mutation in a specific gene called DKC1.

They also showed this mutation leads to a disruption of the proper function of the body's cells.

Unexpected effect

However, this disruption occured in an unexpected source - tiny structures within the cells called ribosomes which control the healthy production of proteins.

Previously, it had been thought that the disruption involved another group of structures known as telomeres.

These are protective structures at the ends of chromosomes, and were thought to be abnormally small in patients with DC.

However, the latest research suggests that telemore length is not the most important factor in the development of the disease.

The scientists believe their discovery could lead to new drugs that kill cancer cells by specifically targeting ribosomes.

Researcher Dr Davide Ruggero said: "This is the first example that shows that a defect in ribosome function may cause cancer.

"In the past, we thought of ribosome as an important but passive machine in the synthesis of proteins while our study suggests that it plays a more active role in maintaining proper cellular function."

New twist

Nicola O'Connor, a science information manager for Cancer Research UK, told BBC News Online the research was highly promising.

"Over the past few years, the study of this rare genetic syndrome has yielded very important clues about the genesis of human cancer.

"The new research adds an exciting new twist to the story by identifying a defect in ribosome function as a cause of the syndrome.

"New targeted treatments that deliver ribosome-inhibiting compounds directly to cancer cells are currently being tested in the clinic.

"Further research is needed to find out whether ribosome defects are linked to the development of cancer in general."

The research is published in the magazine Science.

See also:

20 Sep 00 | Science/Nature
28 Jul 99 | Science/Nature
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