Navigation Links
Whole DNA sequencing reveals mutations, new gene for blinding disease

BOSTON -- Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes. Conventional methods for identification of both RP mutations and novel RP genes involve the screening of DNA coding sequences.

In a paper in the Proceedings of the National Academy of Sciences, researchers from the Massachusetts Eye and Ear, Harvard Medical School, the University of Lausanne, Switzerland, and others tested DNA with the use of whole genome sequencing, a technique that takes into account all variants from both the coding and noncoding regions of the human genome. With this approach the authors report a number of unique RP mutations, a previously undescribed disease gene called NEK2 that involves the retinal photoreceptors, and structural DNA rearrangements originating in introns.

This paper supports the advantages of the use of whole genome sequencing to search for mutations in patients with RP.

The researchers performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants, the authors wrote. Eight patients were from North America, whereas eight were Japanese, a population for which ARRP seems to have different genetic drivers.

Using a specific work flow, they assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures. They detected homozygous or compound het erozygous mutations in 7 genes associated with ARRP (USH2A, RDH12, CNGB1, EYS, PDE6B, DFNB31, and CERKL) in eight patients, three Japanese and five Americans. Fourteen of the 16 mutant alleles identified were previously unknown. Among these, there was a 2.3-kb deletion in USH2A and an inverted duplication of 446 kb in EYS, which would have likely escaped conventional screening techniques or exome sequencing. Moreover, in another Japanese patient, they identified a homozygous frameshift (p.L206fs), absent in more than 2,500 chromosomes from ethnically matched controls, in the ciliary gene NEK2, encoding a serine/threonine-protein kinase. Inactivation of this gene in zebrafish induced retinal photoreceptor defects that were rescued by human NEK2mRNA. In addition to identifying a previously undescribed ARRP gene, the study highlights the importance of rare structural DNA variations in Mendelian diseases and advocates the need for screening approaches that transcend the analysis of the coding sequences of the human genome.


Contact: Mary Leach
Massachusetts Eye and Ear Infirmary

Related medicine news :

1. Mayo Clinic launches whole genome breast cancer study
2. Kidney cancer patients do better when whole kidney is not removed, U-M study shows
3. Low-dose whole-body CT finds disease missed on standard imaging for patients with multiple myeloma
4. Highly targeted irradiation as good as whole breast radiotherapy in early stage cancer
5. Beef & Pork Wholesaling in the US Industry Market Research Report Now Available from IBISWorld
6. Treating the whole person with autism
7. Treating the whole person with autism sets direction for parent-clinician collaboration
8. Whole-genome scan helps select best treatment for childhood cancer
9. Rebuilding a whole heart for children born with only half of 1
10. Benefit6 Whole Body Protection, a New Product by I Do Strive LLC, Provides Maximum Antioxidant Protection
11. Benefit6 Whole Body Protection, a New Product by I Do Strive LLC, Provides Increased Energy Production According to Recent Studies
Post Your Comments:
(Date:6/25/2016)... ... June 25, 2016 , ... ... and applications at AcademyHealth’s Annual Research Meeting June 26-28, 2016, at the Hynes ... important health care topics including advance care planning, healthcare costs and patient and ...
(Date:6/25/2016)... Long Beach, CA (PRWEB) , ... June 25, 2016 , ... ... from UCLA with Magna Cum Laude and his M.D from the David Geffen School ... San Diego and returned to Los Angeles to complete his fellowship in hematology/oncology at ...
(Date:6/24/2016)... ... June 24, 2016 , ... Those who have experienced traumatic events may ... to unhealthy avenues, such as drug or alcohol abuse, as a coping mechanism. To ... for healthy coping following a traumatic event. , Trauma sufferers tend to feel a ...
(Date:6/24/2016)... Francisco, CA (PRWEB) , ... June 24, 2016 ... ... CitiDent, is now offering micro-osteoperforation for accelerated orthodontic treatment. Dr. Cheng has extensive ... self-ligating Damon brackets , AcceleDent, and accelerated osteogenic orthodontics. , Micro-osteoperforation ...
(Date:6/24/2016)... , ... June 24, 2016 , ... ... is proud to recognize Dr. Barry M. Weintraub as a prominent plastic surgeon ... beautiful women in the world, and the most handsome men, look naturally attractive. ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... June 24, 2016   Bay Area Lyme ... Dean Center for Tick Borne Illness , ... Rehabilitation, MIT Hacking Medicine, University of California, Berkeley, ... announced the five finalists of Lyme Innovation ... More than 100 scientists, clinicians, researchers, entrepreneurs, and ...
(Date:6/24/2016)... Va. , June 24, 2016 The ... set of recommendations that would allow biopharmaceutical ... (HCEI) with entities that make formulary and coverage decisions, ... the "value" of new medicines. The recommendations ... does not appear on the drug label, a prohibition ...
(Date:6/24/2016)... , June 24, 2016 Research ... World Market for Companion Diagnostic Tests" report to their ... Market for Companion Diagnostics The World Market ... and personalized medicine diagnostics. Market analysis in the report includes ... Test Market (In Vitro Diagnostic Kits) by Region (N. America, ...
Breaking Medicine Technology: