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Researchers identify gene responsible for Charcot-Marie-Tooth syndrome
by Neha Gupta - March 11, 2010 - comments
According to the researchers, the findings have proved the clinical importance of genome information, which till date was an unexplored area.
In a notable study, scientists claim to have identified the gene mutations associated with Charcot-Marie-Tooth syndrome, an inherited disorder hampering the touch sensation of limbs, hands and feet.
Conducted by U.S scientists, the research involved the genome analysis of a colleague, Dr. James Lupski, vice chairman of molecular and human genetics at Baylor College of Medicine in Houston.
The study included the complete genome sequencing of Lupski, in order to identify the gene mutation responsible for his disorder.
Explaining why the disease struck Lupski and his siblings though none of his parents were affected, the researchers said that the mutations in the copies of the gene SH3TC2 that he had inherited from his parents were different.
The study further revealed that Charcot usually affected people who performed repetitive motions, leading to median nerve compression in the wrist.
The study was published on March 10 in the ‘New England Journal of Medicine’.
According to the researchers, the findings have proved the clinical importance of genome information, which till date was an unexplored area.
Additionally, the study can also lead to the discovery of various disease causing genes through whole genome sequence in near future.
"This is the first time we have tried to identify a disease gene this way," said Lupski. "It demonstrates that the technology is robust enough that we can find disease genes by determining the whole genome sequence.”
“We can start to use this technology to interpret the clinical information in the context of the sequence – of the hand of cards you have been dealt. Isn't that the goal or dream of personalized genomic medicine?"
For studying a disease-causing mutation, the researchers are required to understand the gene sequences as well as the changes in them that cause the disorder. Adding to the difficulty, the mutations in 2 different genes may produce the similar genetic diseases which make the analysis more complicated.
Researchers claim that currently medical science is aware of only 10 percent of the 25000 genes in the human body, signifying the tediousness of genome study.