August 25, 2009

Scientists study a form of gigantism

U.S. scientists say they have gained information that might lead to better screening for the genetic mutations associated with acromegaly.

Researchers from the Van Andel Institute in Grand Rapids, Mich., said the disease -- a form of gigantism that often results in enlarged hands, feet, and facial features -- most often results from a benign pituitary gland tumor that can be deadly if left untreated, but which is difficult to detect until later stages when features become pronounced.

The scientists, led by Dr. Bin Tean Teh and researchers from the University of Malaya and Queen Elizabeth Hospital in Malaysia, located a 31-member aboriginal family in a mountainous area of Malaysian Borneo that included individuals with acromegaly. The scientists traveled to the family's village several times to collect blood samples for testing.

Researchers had recently found a mutation in the AIP gene associated with acromegaly, Teh said. "But we found that several family members who didn't have visible symptoms of acromegaly had this mutation as well. This increases the importance of screening for families with cases of acromegaly since anyone could be a carrier.

The sooner we know how and why people are affected differently by this disease, the sooner we can help families who have it, he added.

The study that included Sok Kean Khoo, lead author of the research, appears in the journal Endocrine-Related Cancer.