Cause of Disease Damaging Nerves Found
By Kim Tae-gyu
Staff Reporter
Prof. Kim Jong-won at Seoul-based Sungkyunkwan University and his associates have found what causes a nerve-damaging disease, dubbed CMTX5, which they had discovered in 2005.
This marks the first time that South Korean scientists have directly pinpointed a gene triggering an illness. CMTX5 is a hereditary disorder, which occurs in 30 to 40 people out of 100,000.
``We discovered a mutation of PRPS1, a gene on the X chromosome, which gives rise to CMTX5. This is why the disorder is only to be found in males,'' Kim said.
``We are currently working on developing a drug to cure CMTX5. It will not be easy but we think patients will be using the medicine a decade from now,'' the 46-year-old said.
The exploits were featured online this month at the American Journal of Human Genetics. The monthly plans to print the article in its September edition.
Kim's team has had a lot to do with CMTX5 because they had found the disease and named it in 2005.
CMTX5 sufferers, who are typically born deaf and later lose their eyesight, suffer from a progressive motor and sensory neuropathy that damages peripheral nerves during childhood.
The weakening of peripheral nerves, which relay information from the central nervous system to other organs, makes CMTX5 patients unable to walk properly due to foot deformities.
To detect the CMTX5-generating gene, Kim's team employed an advanced fusion technology, named the genome-wide scanning technique.
``The genome-wide scanning embraces both biotechnologies and information technologies, which were not be used in Korea before,'' Kim said.
``By taking advantage of the convergence methodology, we hope we will be able to find more genes related to diseases down the road,'' he said.
Among about 25,000 human genes, researchers have discovered only 2,500 genes associated with various diseases and they put forth efforts to search for more disease mechanisms.