Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Clues to Gigantism Provided by Family in Borneo Mountains

25.08.2009
Information could lead to better screening of deadly pituitary disease difficult to detect in early stages
An indigenous family living in a mountainous area of Malaysian Borneo helped Van Andel Research Institute (VARI) researchers to discover information about genetic mutations associated with acromegaly, a form of gigantism that often results in enlarged hands, feet, and facial features.

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.

Researchers located a 31-member aboriginal family that included individuals with acromegaly living in a mountainous region of Borneo, Malaysia when the effects of the family patriarch’s growing pituitary tumor necessitated medical treatment. A medical team including VARI Distinguished Scientific Investigator Bin Tean Teh, M.D., Ph.D., and staff from the Department of Medicine at the University of Malaya Medical Centre 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,” said Dr. Teh, “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. On one side of the family, at least two generations carried the gene before someone showed any symptoms.”

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. Well-known acromegalics include wrestler-actor André the Giant and motivational speaker Tony Robbins.

VARI Research Scientist and lead author of the study Sok Kean Khoo, Ph.D., 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; these findings were published this week in the journal Endocrine-Related Cancer.

The prevalence of acromegaly is approximately 4,676 cases per million population, and the incidence is approximately 117 new cases per million per year. However, Dr. Khoo said that the recent findings may mean that the prevalence is higher since carriers of the genetic mutation who do not have symptoms are not included.

“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. “One of the women in this family was only 19 and probably thought that since her grandfather had lived so long with the disease, she would too. She chose not to go to the hospital for treatment and, sadly, died two years after our last visit.”

About Van Andel Institute
Established by Jay and Betty Van Andel in 1996, Van Andel Institute (VAI) is an independent research and educational organization based in Grand Rapids, Mich., dedicated to preserving, enhancing and expanding the frontiers of medical science, and to achieving excellence in education by probing fundamental issues of education and the learning process. VARI, the research arm of VAI, is dedicated to probing the genetic, cellular and molecular origins of cancer, Parkinson and other diseases and working to translate those findings into effective therapies. This is accomplished through the work of over 200 researchers in 18 on-site laboratories, in laboratories in Singapore and Nanjing, and in collaborative partnerships that span the globe.

Joe Gavan | EurekAlert!
Further information:
http://www.vai.org

Further reports about: Andel Borneo Gigantism Medicine VAI VARI blood sample family members genetic mutation

More articles from Life Sciences:

nachricht Multi-institutional collaboration uncovers how molecular machines assemble
02.12.2016 | Salk Institute

nachricht Fertilized egg cells trigger and monitor loss of sperm’s epigenetic memory
02.12.2016 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

Im Focus: Molecules change shape when wet

Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water

In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...

Im Focus: Fraunhofer ISE Develops Highly Compact, High Frequency DC/DC Converter for Aviation

The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.

Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

UTSA study describes new minimally invasive device to treat cancer and other illnesses

02.12.2016 | Medical Engineering

Plasma-zapping process could yield trans fat-free soybean oil product

02.12.2016 | Agricultural and Forestry Science

What do Netflix, Google and planetary systems have in common?

02.12.2016 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>