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 Immune Defense Without Collateral Damage
23.01.2017 | Universität Basel

nachricht The interactome of infected neural cells reveals new therapeutic targets for Zika
23.01.2017 | D'Or Institute for Research and Education

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Quantum optical sensor for the first time tested in space – with a laser system from Berlin

For the first time ever, a cloud of ultra-cold atoms has been successfully created in space on board of a sounding rocket. The MAIUS mission demonstrates that quantum optical sensors can be operated even in harsh environments like space – a prerequi-site for finding answers to the most challenging questions of fundamental physics and an important innovation driver for everyday applications.

According to Albert Einstein's Equivalence Principle, all bodies are accelerated at the same rate by the Earth's gravity, regardless of their properties. This...

Im Focus: Traffic jam in empty space

New success for Konstanz physicists in studying the quantum vacuum

An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...

Im Focus: How gut bacteria can make us ill

HZI researchers decipher infection mechanisms of Yersinia and immune responses of the host

Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...

Im Focus: Interfacial Superconductivity: Magnetic and superconducting order revealed simultaneously

Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.

While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...

Im Focus: Studying fundamental particles in materials

Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales

Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Sustainable Water use in Agriculture in Eastern Europe and Central Asia

19.01.2017 | Event News

12V, 48V, high-voltage – trends in E/E automotive architecture

10.01.2017 | Event News

2nd Conference on Non-Textual Information on 10 and 11 May 2017 in Hannover

09.01.2017 | Event News

 
Latest News

Tracking movement of immune cells identifies key first steps in inflammatory arthritis

23.01.2017 | Health and Medicine

Electrocatalysis can advance green transition

23.01.2017 | Physics and Astronomy

New technology for mass-production of complex molded composite components

23.01.2017 | Process Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>