Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

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

30.07.2012
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."

About BGI
BGI was founded in Beijing, China, in 1999 with the mission to become a premier scientific partner for the global research community. The goal of BGI is to make leading-edge genomic science highly accessible, which it achieves through its investment in infrastructure, leveraging the best available technology, economies of scale, and expert bioinformatics resources. BGI, and its affiliates, BGI Americas, headquartered in Cambridge, MA, and BGI Europe, headquartered in Copenhagen, Denmark, have established partnerships and collaborations with leading academic and government research institutions as well as global biotechnology and pharmaceutical companies, supporting a variety of disease, agricultural, environmental, and related applications.

BGI has a proven track record of excellence, delivering results with high efficiency and accuracy for innovative, high-profile research: research that has generated over 200 publications in top-tier journals such as Nature and Science. BGI's many accomplishments include: sequencing one percent of the human genome for the International Human Genome Project, contributing 10 percent to the International Human HapMap Project, carrying out research to combat SARS and German deadly E. coli, playing a key role in the Sino-British Chicken Genome Project, and completing the sequence of the rice genome, the silkworm genome, the first Asian diploid genome, the potato genome, and, more recently, have sequenced the human Gut Metagenome, and a significant proportion of the genomes for the1000 Genomes Project. For more information about BGI, please visit www.genomics.cn
Contact Information:

Ming Qi
Professor and Director of Center for Genetic and Genomic Medicine, Zhejiang University School of Medicine First Affiliated Hospital and James D. Watson Institute of Genome Sciences,
Chief Scientist of BGI,
qiming@genomics.cn
www.genomics.cn
Bicheng Yang
Public Communication Officer
BGI
+86-755-82639701
yangbicheng@genomics.cn
www.genomics.cn

Jia Liu | EurekAlert!
Further information:
http://www.genomics.cn

More articles from Health and Medicine:

nachricht New malaria analysis method reveals disease severity in minutes
14.08.2017 | University of British Columbia

nachricht New type of blood cells work as indicators of autoimmunity
14.08.2017 | Instituto de Medicina Molecular

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

A Map of the Cell’s Power Station

18.08.2017 | Life Sciences

Engineering team images tiny quasicrystals as they form

18.08.2017 | Physics and Astronomy

Researchers printed graphene-like materials with inkjet

18.08.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>