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Scientists make discovery of mutation causing genetic disorder in humans

05-14-2012 17:25 BJT

SINGAPORE, May 14 (Xinhua) -- Scientists at Singapore's Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and the United States, have identified the genetic cause of a birth defect known as Hamamy syndrome.

Their groundbreaking findings lend new insights into common ailments such as heart disease, osteoporosis, blood disorders and possibly sterility, said the Press Center of MICA (Singapore's Ministry of Information, Communication and Arts) on Monday.

Hamamy syndrome is a rare genetic disorder which is marked by abnormal facial features and defects in the heart, bone, blood and reproductive cells. Its exact cause was unknown until now. The international team, led by scientists at IMB, have pinpointed the genetic mistake to be a mutation in a single gene called IRX5, said the press center.

This is the first time that a mutation in IRX5 has ever been discovered in man. IRX5 is part of a family of transcription factors that is highly conserved in all animals, meaning that this gene is present not only in humans but also in mice, fish, frogs, flies and even worms. Using a frog model, the scientists demonstrated that Irx5 orchestrates cell movements in the developing foetus which underlie head and gonad formation.

The international team is led by scientists at IMB, which is under Singapore's Agency for Science, Technology and Research (A* STAR).

Dr Bruno Reversade, senior principle investigator at IMB, said "We believe that this discovery could open up new therapeutic solutions to common diseases like osteoporosis, heart disease and anaemia which affect millions of people worldwide."

"The findings also provide a framework for understanding fascinating evolutionary questions, such as why humans of different ethnicities have distinct facial features and how these are embedded in our genome," said Reversade.

Professor Birgitte Lane, executive director of IMB, said " Understanding how various pathways in the human body function is the foundation for developing new therapeutic targets. This is an important piece of research that I believe will be of great interest to many scientists and clinicians around the world because of the clinical and genetic insights it brings to a large range of diseases."

Editor:Du Xiaodan |Source: Xinhua

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