A Novel Gene Behind Spinocerebellar Ataxia

The discovery of the SCA40 mutation could lead to new therapies for spinocerebellar ataxia, a disease for which there is currently no effective treatment.

AsianScientist (Sep. 29, 2014) – A multi-disciplinary research team led by Prof. H.Y. Edwin Chan of the School of Life Sciences at The Chinese University of Hong Kong (CUHK) has identified a novel genetic mutation that leads to spinocerebellar ataxia (SCA). The study has been published in the Journal of Medical Genetics.

SCAs refer to a group of genetic diseases that cause progressive deterioration of the nervous system, particularly the cerebellum (referred to as ‘small brain’), and are, at present, considered to be incurable. Sufferers gradually lose the fine motor functions of their bodies and have difficulty maintaining balance or coordinating daily movements.

In 2011, Professor Chan and his team consisting of biochemists, bioinformaticians, cell biologists, chemical pathologist, medical geneticists, neurologists and radiologist, embarked on a cross-disciplinary study with the aim of unveiling the underlying cause of a familial form of SCA identified in the local population.

By means of next generation sequencing, the team first tracked down candidate disease-causing polymorphisms in the patients’ genomes. With a concerted experimental and bioinformatic effort, the researchers finally confined the SCA mutation to the coiled-coil domain containing 88C (CCDC88C) gene. This newly discovered form of SCA has been recognized as ‘SCA40’ by the Human Genome Organization Gene Nomenclature Committee.

Further research has shown that the SCA40 mutation causes an upregulation of the JNK signaling pathway in cells, subsequently triggering cell death. This suggests that targeting the JNK pathway could be a way of treating SCA.

“The new findings have opened up opportunities for clinical geneticists to provide genetic testing and counselling services to patients. In future, our team will work on therapeutics that target SCA40,” said Prof. Chan.

The article can be found at: Tsoi et al. (2014) A Novel Missense Mutation in CCDC88C Activates the JNK Pathway and Causes a Dominant Form of Spinocerebellar Ataxia.

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Source: Chinese University of Hong Kong.
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