Groundbreaking discovery of mutation causing genetic disorder inhumans, birth defects

Scientists at A*STAR's Institute of Medical Biology (IMB), incollaboration with doctors and scientists in Jordan, Turkey,Switzerland and USA, have identified the genetic cause of a birthdefect known as Hamamy syndrome[1]. Their groundbreaking findingswere published in the prestigious journal Nature Genetics . The work lends new insights into common ailments such as heart disease , osteoporosis , blood disorders and possibly sterility. Hamamy syndrome is a rare genetic disorder which is marked byabnormal facial features and defects in the heart, bone, blood andreproductive cells. Its exact cause was unknown until now. Theinternational team, led by scientists at IMB, have pinpointed thegenetic mistake to be a mutation in a single gene called IRX5.

 This is the first time that a mutation in IRX5 (and the family ofIRX genes) has ever been discovered in man. IRX5 is part of afamily of transcription factors that is highly conserved in allanimals, meaning that this gene is present not only in humans butalso in mice, fish, frogs, flies and even worms. Using a frogmodel, the scientists demonstrated that Irx5 orchestrates cellmovements in the developing foetus which underlie head and gonadformation. Carine Bonnard, a final-year PhD student at IMB and the firstauthor of the paper, said, "Because Hamamy syndrome causes a widerange of symptoms, not just in newborn babies but also in theadult, this implies that IRX5 is critical for development in thewomb as well as for the function of many organs in our adult body.For example, patients with this disease cannot evacuate tears fromtheir eyes, and they will also go on to experience repetitive bone fractures (Annex A) or progressive myopia as they age. This discovery of thecausative gene is a significant finding that will catalyze researchefforts into the role of the Irx gene family and greatly increaseour understanding of human health, such as bone homeostasis, orgamete formation for instance." "We believe that this discovery could open up new therapeuticsolutions to common diseases like osteoporosis, heart disease,anaemia which affect millions of people worldwide," said Dr BrunoReversade, Senior Principal Investigator at IMB. "The findings alsoprovide a framework for understanding fascinating evolutionaryquestions, such as why humans of different ethnicities havedistinct facial features and how these are embedded in our genome.IRX genes have been repeatedly co-opted during evolution, and smallvariation in their activity could underlie fine alterations in theway we look, or perhaps even drastic ones such as the traits seenin an elephant bending machine, whale, turtle or frog body pattern." Only a handful of people in the world have been identified withHamamy Syndrome making it a very rare genetic disorder. Raregenetic diseases, usually caused by mutations in a single gene,provide a unique opportunity to better understand more commondisease processes.

These "natural" experiments are similar tocarefully controlled knockout animal experiments in which thefunction of single genes are analyzed and often give major insightsinto general health issues.[2] Prof Birgitte Lane, Executive Director of IMB, said, "Understandinghow various pathways in the human body function is the foundationfor developing new therapeutic targets. This is an important pieceof research that I believe will be of great interest to manyscientists and clinicians around the world because of the clinicaland genetic insights it brings to a large range of diseases." Additional References Citations. The e-commerce company in China offers quality products such as busbar bending, , and more. For more , please visit today!
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