Navigation Links
Gene responsible for common hearing loss identified for first time

A gene responsible for the single most common cause of hearing loss among white adults, otosclerosis, has been identified for the first time, a scientist told the annual conference of the European Society of Human Genetics in Nice, France. Ms Melissa Thys, from the Department of Medical Genetics, University of Antwerp, Belgium, said that this finding may be a step towards new treatments for otosclerosis, which affects approximately 1 in 250 people.

Otosclerosis is a multifactorial disease, caused by an interaction of genetic and environmental factors. The outcome is a progressive hearing loss as the growing bone in the middle ear interrupts the sound waves passing to the inner ear. While the causative factors remain unknown, now one of the genetic components has been identified, Ms Thys told the conference. “The gene in which the variant is located points to a pathway that contributes to the disease. This may be a lead for better forms of treatment in the future; currently the best option is an operation. However, there is often an additional component of hearing loss which can’t be restored by surgery. As the gene involved is a growth factor, and the disease manifests itself by the abnormal growth of bone in the middle ear, it may have a large potential for therapy”, she said. Improved understanding may also lead to prevention strategies.

Ms Thys and her team decided to study a gene called TGBF1 which they already knew had non-genetic indications of involvement in otosclerosis: it plays a role during embryonic development of the ear and is expressed in otosclerotic bone. They used SNP (single nucleotide polymorphism) analysis, or looking at DNA sequence variations occurring in a single nucleotide, A, T, C or G, to study a large patient and control population from Belgium and The Netherlands. They found significant results for an amino acid changing SNP inTGBF1, and that this remained significant after correcting for multiple testing. Analysis of a large French group showed the same association.

“Combining the data from both groups with a common odds ratio gave a very significant result, from which we were able to conclude that we were the first to identify a gene that influences the susceptibility for otosclerosis”, said Ms Thys. “And, as further evidence, we were also able to show that a more active variant of this gene is protective against the disease.”


'"/>

Source:European Society of Human Genetics


Related biology news :

1. Scientists identify genes responsible for black rot disease in vegetables
2. Scientists discover genetic pathway responsible for breast cancer cell growth
3. K-State professors discover enzyme responsible for creation of a beetles hard shell
4. Gene therapy reverses genetic mutation responsible for heart failure in muscular dystrophy
5. Key stress protein linked to toxicities responsible for Parkinsons, Alzheimers
6. A single sugar found responsible for an antibodys ability to treat inflammation
7. Researchers discover new gene responsible for brittle bone disease
8. Study shows antibiotic-resistant bacteria responsible for increase in muscle infections
9. Study uncovers mutation responsible for Noonan Syndrome
10. Scientists sequence genome of parasite responsible for common sexually transmitted infection
11. Study shows continued success for new HPV vaccine against virus responsible for cervical cancer

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:3/24/2017)... MILAN , March 24, 2017 The Controller ... Deputy Controller Mr. Abdulla Algeen have received the prestigious international ... Continue Reading ... ... small picture) and Deputy Controller Abdulla Algeen (small picture on the right) ...
(Date:3/22/2017)... YORK , March 21, 2017 ... Marketing Cloud used by retailers such as 1-800-Flowers ... its platform — Product Recommendations and Replenishment. Using Optimove,s ... give more personalized product and replenishment recommendations to ... but also on predictions of customer intent drawn ...
(Date:3/13/2017)... -- Future of security: Biometric Face Matching software  ... ... Face Matching enables to match face pictures against each other or against large ... Identification Systems) ... is the fastest software for biometric Face Matching on the market. The speed ...
Breaking Biology News(10 mins):
(Date:4/20/2017)... ... 20, 2017 , ... Energetiq Technology , a world ... Chief Executive Officer (CEO) Debbie Gustafson has been appointed to the SEMI North ... connecting the electronics manufacturing supply chain. The mission of the SEMI NAAB is ...
(Date:4/20/2017)... ... April 20, 2017 , ... ... a unique intellectual property (IP) sharing and commercialization model. , The Center for ... A main component of this effort is bringing the IP to the attention ...
(Date:4/20/2017)... and PETACH TIKVAH, Israel , ... a leading developer of adult stem cell technologies for neurodegenerative ... Officer, will present at the Alliance for Regenerative Medicine,s (ARM) ... on Thursday, April 27, 2017 at 09:40 EDT in ... Ralph Kern , MD, MHSc, Chief Medical Officer & Chief ...
(Date:4/19/2017)... ... April 18, 2017 , ... The ... a key device for generating monodisperse droplets of known diameters for research applications ... generating monodisperse solid particles by drying monodisperse droplets. , The VOAG requires ...
Breaking Biology Technology: