Navigation Links
BGI reports the latest finding on NMNAT1 mutations linked to Leber congenital amaurosis
Date:7/29/2012

July 29th, 2012, Shenzhen, China A five-country international team, led by Casey Eye Institute Molecular Diagnostic laboratory, BGI and Zhejiang University School of Medicine First Affiliated Hospital identified the NMNAT1 mutations as a cause of Leber congenital amaurosis (LCA), one of the most common causes of inherited blindness in children. The latest study was published online in Nature Genetics, reporting the genetic characteristics underlying some LCA patients, and providing important evidences that support NMNAT1 as a promising target for the gene therapy of LCA.

LCA is an inherited retinal degenerative disease characterized by severe loss of vision at birth. It is estimated that LCA occurs in 2 to 3 per 100,000 newborns. Currently a lot of studies are being done on LCA. Scientists found that LCA could result from mutations in at least 17 genes, all of which are necessary for normal vision and play important roles in the development and function of the retina. More importantly, gene replacement therapy has been successful in animal models and in humans more studies are underway. However, the genetic characters for about 20-30% LCA patients are still unknown.

In this study, the researchers sequenced the whole exome of an LCA patient with no previously identified mutations. They identified 2,460 previously unreported variants. Through a series of screening and analysis, the result indicated that the gene NMNAT1 may serve as a candidate for LCA. Previous studies have shown that NMNAT1 plays an important role in axonal degeneration, because it could encode an enzyme in the NAD (Nicotinamide adenine dinucleotide) biosynthesis pathway associated with protection against axonal degeneration.

In the further evaluation of NMNAT1, the researchers used Sanger sequencing to analyze 50 unrelated LCA patients with no previously indentified mutations, and they found that ten patients carried NMNAT1 mutations. By relating the clinical phenotypes of LCA patients with the mutations, the researchers found that the severity of LCA may correlate with the types of NMNAT 1 mutation: the patients carrying both of the missense variant (c.769G>A, p.Glu257Lys) and nonsense variant (c.507G>A, p.Trp169*) were all blind at birth; while those who carrying only missense variant (c.769G>A, p.Glu257Lys) may develop poor vision within a few years after birth.

Professor Ming Qi, Chief Scientist at BGI, Director of Center for Genetic and Genomic Medicine, Zhejiang University School of Medicine First Affiliated Hospital and James D. Watson Institute of Genome Sciences, said, "LCA is one of the most common causes of inherited blindness in childhood. The study on NMNAT1 lays a solid foundation for understanding genetic characteristics of LCA and other related congenital blindness diseases. It is also an important step forward for developing new molecular diagnosis and gene therapy."


'/>"/>
Contact: Jia Liu
liujia@genomics.cn
BGI Shenzhen
Source:Eurekalert

Related biology news :

1. Aware, Inc. Reports First Quarter 2012 Financial Results
2. Radiologists study necessity of additional imaging recommendations in PET/CT oncologic reports
3. BGI reports the completed sequence of foxtail millet genome
4. GEN reports on growth of tissue engineering revenues
5. Aware, Inc. Reports Second Quarter 2012 Financial Results
6. Crestor Delivers Latest LDL-C Targets in High-Risk Patients at Lower Doses than Other Statins
7. Latest Southern Ocean research shows continuing deep ocean change
8. Coral reef experts to present latest coral reef science during July symposium
9. American Society for Microbiologys newest journal earns a high impact factor in latest rankings
10. UMD finding may hold key to Gaia hypothesis
11. ACRG and BGI report findings from genomics research on recurrent hepatitis B virus integration
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/16/2017)... 16, 2017   Bridge Patient Portal , ... MD EMR Systems , an electronic medical ... GE, have established a partnership to build an ... the GE Centricity™ products, including Centricity Practice Solution ... These new integrations will allow healthcare delivery ...
(Date:4/19/2017)... ALBANY, New York , April 19, 2017 /PRNewswire/ ... highly competitive, as its vendor landscape is marked by ... in the market is however held by five major ... and Safran. Together these companies accounted for nearly 61% ... majority of the leading companies in the global military ...
(Date:4/13/2017)... , April 13, 2017 UBM,s Advanced Design ... will feature emerging and evolving technology through its ... Summits will run alongside the expo portion of the ... panels and demonstrations focused on trending topics within 3D ... design and manufacturing event will take place June 13-15, 2017 ...
Breaking Biology News(10 mins):
(Date:7/20/2017)... Massachusetts (PRWEB) , ... July 20, 2017 , ... ... a multi-part seminar on digital pathology and artificial intelligence Tuesday, July 25, during ... Dr. Alexander Baras from Johns Hopkins Medicine. , Baras, Associate Director of ...
(Date:7/18/2017)... ... July 18, 2017 , ... Nanomedical Diagnostics, a cutting-edge ... the launch of a new NTA biosensor chip for use with its label-free ... kinetics of polyhistidine-tagged (His-tagged) molecules quickly and reliably. , “Recombinant proteins are ...
(Date:7/18/2017)... ... July 18, 2017 , ... Blood centers traditionally see a dangerous ... Nationally, summer is a struggle for community blood centers as high schools are out ... Chamber of Commerce is teaming up with the South Texas Blood & ...
(Date:7/17/2017)... ... ... The Academy of Model Aeronautics (AMA) will host Aviation Adventure Day on ... from 9 a.m. to 2 p.m. at the International Aeromodeling Center in Muncie, Indiana. ... Day will be packed with entertaining activities for the entire family. Attendees will learn ...
Breaking Biology Technology: