Team in blindness discovery
Source: Xinhua |
August 2, 2012, Thursday
|
Print Edition
Print Edition
AN international research team led by Chinese scientists has found a new gene that can cause congenital blindness.
About 70 percent of congenital blindness cases are caused by the mutation of one of the 17 disease-causing genes which have already been discovered, while the cause of the other 30 percent have not yet been found.
After studying cases where the cause of disease was still unknown, the researchers, led by Qi Ming, a professor at Zhejiang University, concluded that a gene called "NMNAT1" was a cause of congenital eye disease.
The NMNAT1 gene can protect the light receptor cells in the retina and is also of great importance for the nerve cells and the heart, kidney and liver tissue in human body.
The mutation of the gene can cause a kind of congenital blindness called the Leber congenital amaurosis, Qi said, adding that the mutation of NMNAT1 also harms the patients' nerves and some organs.
Gu Yangshun, an expert with the First Affiliated Hospital of Zhejiang University, said that there are more than 600 kinds of hereditary eye diseases which are hard to diagnose, and genetic testing is a key measure to diagnose the diseases.
Besides Qi Ming's team, scientists in Houston, France and Boston had also found that particular disease-causing gene, and their essays were published in the Nature Genetics earlier this week.
Experts said identifying of the gene had provided a way to treat the disease.
Qi said that in the US and Europe, some scientists had mastered the technology to identify the location of the disease-causing gene in the patient's eyes and inject good genes there to promote healthy development of the organs.
Within three years, China will be able to use this kind of treatment as well to treat congenital eye diseases and the identifying of the NMNAT1 gene will prove to be of great significance, Qi said.
About 70 percent of congenital blindness cases are caused by the mutation of one of the 17 disease-causing genes which have already been discovered, while the cause of the other 30 percent have not yet been found.
After studying cases where the cause of disease was still unknown, the researchers, led by Qi Ming, a professor at Zhejiang University, concluded that a gene called "NMNAT1" was a cause of congenital eye disease.
The NMNAT1 gene can protect the light receptor cells in the retina and is also of great importance for the nerve cells and the heart, kidney and liver tissue in human body.
The mutation of the gene can cause a kind of congenital blindness called the Leber congenital amaurosis, Qi said, adding that the mutation of NMNAT1 also harms the patients' nerves and some organs.
Gu Yangshun, an expert with the First Affiliated Hospital of Zhejiang University, said that there are more than 600 kinds of hereditary eye diseases which are hard to diagnose, and genetic testing is a key measure to diagnose the diseases.
Besides Qi Ming's team, scientists in Houston, France and Boston had also found that particular disease-causing gene, and their essays were published in the Nature Genetics earlier this week.
Experts said identifying of the gene had provided a way to treat the disease.
Qi said that in the US and Europe, some scientists had mastered the technology to identify the location of the disease-causing gene in the patient's eyes and inject good genes there to promote healthy development of the organs.
Within three years, China will be able to use this kind of treatment as well to treat congenital eye diseases and the identifying of the NMNAT1 gene will prove to be of great significance, Qi said.
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