An indigenous family living in a mountainous area of Malaysian Borneo has helped scientists to discover information about genetic mutations associated with acromegaly.
Acromegaly is a form of gigantism that often results in enlarged hands, feet, and facial features. The researchers were from Van Andel Research Institute (VARI).
The information could lead to better screening for the disease, which 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.
A medical team including VARI Distinguished Scientific Investigator Bin Tean Teh, and staff from the Department of Medicine at the University of Malaya Medical Center and the Department of Medicine at the Queen Elizabeth Hospital in Malaysia subsequently 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, but we found that several family members who didn't have visible symptoms of acromegaly had this mutation as well," said Dr. The.
"This increases the importance of screening for families with cases of acromegaly since anyone could be a carrier. On one side of the family, at least two generations carried the gene before someone showed any symptoms," he added.
The later stages of acromegaly often produce enlarged hands and feet, protruding brows and lower jaws, thick voice and slowed speech from swelling of vocal cords, and other symptoms.
When diagnosed, the tumor and entire pituitary gland are usually removed, followed by hormone therapy for the rest of the patient's life.
However, because the progression of the disease is so gradual, it is difficult to detect. If left unchecked, patients can die from complications such as heart or kidney failure.
Sok Kean Khoo, VARI Research Scientist and lead author of the study, led researchers in scanning DNA in the family's blood to find other factors that might explain why only some family members with the genetic mutation had visible symptoms of the disease.
They found regions on a few chromosomes that might lead to further insight.The sooner we know how and why people are affected differently by this disease, the sooner we can help families who have it," said Dr. Teh.