Features | Partner Sites | Information | LinkXpress
Sign In
PZ HTL SA
GLOBETECH PUBLISHING LLC
GLOBETECH PUBLISHING LLC

Genetic Cause of Hamamy Syndrome Discovered

By BiotechDaily International staff writers
Posted on 24 May 2012
Scientists have identified the genetic cause of a birth defect known as Hamamy syndrome. 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 by abnormal facial features and defects in the heart, bone, blood, and reproductive cells.

Scientists from A*STAR’s Institute of Medical Biology (IMB; Singapore), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland, and the United States made the discovery and published their findings in the May 13, 2012, journal Nature Genetics. The international team pinpointed the genetic mistake to be a mutation in a single gene called IRX5. This is the first time that a mutation in IRX5 (and the family of IRX genes) has been discovered in man.

IRX5 is part of a family of transcription factors that is highly conserved in all animals, and is found in humans, mice, fish, frogs, flies, and worms. Using a frog model, the scientists demonstrated that IRX5 organizes cell movements in the developing fetus that underlie head and gonad formation.

The IMB investigators believe that their discovery could help the development of therapeutic solutions to common diseases such as osteoporosis, heart disease, and anemia.

Carine Bonnard, a final-year PhD student at IMB and the first author of the paper, said, “Because Hamamy syndrome causes a wide range of symptoms, not just in newborn babies but also in the adult, this implies that IRX5 is critical for development in the womb as well as for the function of many organs in our adult body. For example, patients with this disease cannot evacuate tears from their eyes, and they will also go on to experience repetitive bone fractures or progressive myopia as they age. This discovery of the causative gene is a significant finding that will catalyze research efforts into the role of the Irx gene family and greatly increase our understanding of human health, such as bone homeostasis, or gamete formation, for instance.”

Related Links:

A*STAR’s Institute of Medical Biology



comments powered by Disqus

Channels

Drug Discovery

view channel
Image: The nano-cocoon drug delivery system is biocompatible, specifically targets cancer cells, can carry a large drug load, and releases the drugs very quickly once inside the cancer cell. Ligands on the surface of the \"cocoon\" trick cancer cells into consuming it. Enzymes (the “worms\" in this image) inside the cocoon are unleashed once inside the cell, destroying the cocoon and releasing anticancer drugs into the cell (Photo courtesy of Dr. Zhen Gu, North Carolina State University).

Novel Anticancer Drug Delivery System Utilizes DNA-Based Nanocapsules

A novel DNA-based drug delivery system minimizes damage to normal tissues by utilizing the acidic microenvironment inside cancer cells to trigger the directed release of the anticancer drug doxorubicin (DOX).... Read more

Lab Technologies

view channel

Experimental Physicists Find Clues into How Radiotherapy Kills Cancer Cells

A new discovery in experimental physics has implications for a better determination of the process in which radiotherapy destroys cancer cells. Dr. Jason Greenwood from Queen’s University Belfast (Ireland) Center for Plasma Physics collaborated with scientists from Italy and Spain on the work on electrons, and published... Read more

Business

view channel

Interest in Commercial Applications for Proteomics Continues to Grow

Increasing interest in the field of proteomics has led to a series of agreements between private proteomic companies and academic institutions as well as deals between pharmaceutical companies and novel proteomics innovator biotech companies. Proteomics is the study of the structure and function of proteins.... Read more
 
Copyright © 2000-2014 Globetech Media. All rights reserved.