Scoliosis, a disease in which the spine bends, is an idiopathic scoliosis whose cause cannot be identified in many cases.The most common idiopathic scoliosis is adolescent idiopathic scoliosis (AIS), which occurs in about 2% of Japanese people.A collaborative research group consisting of Shiro Ikegawa, team leader of RIKEN Center for Integrative Medical Sciences, and Professor Morio Matsumoto of Keio University School of Medicine announced that they have discovered a new gene "BNC2" related to the onset of AIS.

 Genetic factors are thought to be involved in the onset of AIS, and the search for the causative gene has been conducted all over the world.This time, the group discovered that the BNC1 gene is involved in the onset of AIS by genetic analysis of about 8000 Japanese AIS patients and non-patients.Furthermore, when BNC2 was overexpressed in the model organism zebrafish, scoliosis developed in about 2%. Since BNC65 was highly expressed in the spinal cord, bone, and cartilage, it is considered that abnormalities in BNC2 are involved in the onset of AIS through disorders in the formation of spinal cord, bone, and cartilage.

 With the discovery of a new AIS susceptibility gene, it is expected that the elucidation of the cause and pathophysiology of AIS will progress dramatically.Furthermore, in the future, it is expected that functional analysis of BNC2 and detailed investigation of new pathways involved in the onset of AIS will lead to the development of new types of AIS therapeutic agents.
 This research was conducted as a joint research with Kyoto University, Hiroshima University, and Nanjing University in China, and the results were published in the electronic version of the American scientific journal American Journal of Human Genetics.

Source:[Keio University] Discovery of the gene "BNC2" related to the onset of adolescent idiopathic scoliosis (AIS) -To elucidate the onset mechanism of AIS and breakthrough to the development of new therapies-

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