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[2013/04/16] The Taipei VGH-NYMU Neurogenetics Research Team Uncovers the Novel Genetic Cause of Hereditary Motor and Sensory Neuropathy
The Taipei VGH-NYMU Neurogenetics Research Team Uncovers the Novel Genetic Cause of Hereditary Motor and Sensory Neuropathy

[2013/04/16]

The Taipei VGH-NYMU Neurogenetics Research Team Uncovers the Novel Genetic Cause of Hereditary Motor and Sensory Neuropathy

The Taipei VGH-NYMU neurogenetics research team, which consists of researchers from the Taipei Veterans General Hospital or National Yang-Ming University, recently successfully identified a novel disease causative gene of hereditary motor and sensory neuropathy (HMSN). On April 8, 2013, the research team held a press conference at the Taipei Veterans General Hospital and Dr. Yi-Chung Lee, associate professor of Neurology, reported their findings at the news conference. Three patients and their families were also invited to talk about their diseases and experiences.

HMSN is also known as Charcot-Marie-Tooth disease (CMT) or progressive peroneal muscular atrophy. They are a group of inherited disorders affecting the peripheral nervous system. Patients with HMSN show progressive distal limb muscle atrophy and weakness, accompanied with foot deformities, gait disturbance, or loss of balance. Some patients may require walking aids or even eventually become wheelchair-bound. Weakness in the hands and forearms may occur and cause difficulty in pinching and grasping later in life as the disease progresses. Many patients also have loss of sensation in the distal extremities due to sensory nerves involvement. The onset of HMSN usually begins in late childhood or early adulthood. HMSN is one of the most common inherited neurological diseases. Its prevalence is 1 per 2,500 persons, indicating that there may be more than 9,000 HMSN patients in Taiwan.

In order to identify a mutation in a novel disease gene of HMSN in Mr. Lin's family, the Taipei VGH-NYMU neurogenetics research team utilized the Next-Generation Sequencing technique, and finally identified a novel disease-causing mutation in the guanine nucleotide-binding protein (G protein) subunit beta-4 (G beta 4) gene (GNB4) for HMSN. G-proteins are composed of alpha, beta, and gamma subunits, and are important signal transducing molecules in cells. G beta 4 may involve in transmitting extracellular signals such as neurotransmitters into cells in the peripheral nervous system. This important work has been published in the top journal in Genetics-The American Journal Human Genetics on March 7, 2013.

The participants of the TPEVGH-NYMU neurogenetics research team include Prof. Lung-Sen Kao, Prof. Bing-Wen Soong, and Dr. Pei-Chien Tsai from Brain Research Center, National Yang-Ming University, Dr. Yen-Hua Huang from Center for Systems and Synthetic Biology, National Yang-Ming University, Dr. Tze-Tze Liu from VYM Genome Research Center of National Yang-Ming University, and Dr. Kon-Ping Lin and Dr. Yi-Chung Lee from Department of Neurology, Taipei Veterans General Hospital. This work not only highlights the importance of the G proteins in the pathogenic mechanism of HMSN, but also suggests new directions for the researches aiming the treatment of HMSN.

The Taipei VGH-NYMU Team Uncovered the Novel Genetic Cause of Hereditary Motor and Sensory Neuropathy

The Taipei VGH-NYMU Neurogenetics Research Team Uncovers the Novel Genetic Cause of Hereditary Motor and Sensory Neuropathy


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