Navigation Links
BGI reports the latest finding on NMNAT1 mutations linked to Leber congenital amaurosis

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
BGI Shenzhen

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:
(Date:10/29/2015)... , Oct. 29, 2015  Connected health pioneer, ... the explosion of technology-enabled health and wellness, and the ... book, The Internet of Healthy Things ... or smartphones even existed, Dr. Kvedar, vice president, Connected ... health care delivery, moving care from the hospital or ...
(Date:10/27/2015)... YORK , Oct. 27, 2015 In ... major issues of concern for various industry verticals such ... is due to the growing demand for secure & ... in various ,sectors, such as hacking of bank accounts, ... for electronic equipment such as PC,s, laptops, and smartphones ...
(Date:10/26/2015)... 26, 2015 ... adds Biometrics Market Shares, Strategies ... well as Emerging Biometrics Technologies: Global ... its collection of IT and Telecommunications ... --> . ...
Breaking Biology News(10 mins):
(Date:11/27/2015)... , ... November 27, 2015 , ... ... that includes over 2,000 technical presentations offered in symposia, oral sessions, workshops, ... applied spectroscopy, covers a wide range of applications such as, but not limited ...
(Date:11/25/2015)... -- PharmAthene, Inc. (NYSE MKT: PIP) announced  today that its ... (Rights Plan) in an effort to preserve the value ... 382 of the Internal Revenue Code (Code). ... its NOLs could be substantially limited if the Company ... of the Code. In general, an ownership change occurs ...
(Date:11/25/2015)... 25, 2015 /PRNewswire/ - Aeterna Zentaris Inc. (NASDAQ:  AEZS; ... and prospects remain fundamentally strong and highlights the ... recently received DSMB recommendation to continue the ZoptEC ... of the final interim efficacy and safety data ... in men with heavily pretreated castration- and Taxane-resistant ...
(Date:11/24/2015)... LUMPUR, Malaysia , Nov. 24, 2015 /PRNewswire/ ... global contract research organisation (CRO) market. The trend ... result in lower margins but higher volume share ... increased capacity and scale, however, margins in the ... Research Organisation (CRO) Market ( ), ...
Breaking Biology Technology: