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:2/2/2016)... MOUNTAIN VIEW, Calif. , Feb. 2, 2016 ... diabetic retinopathy market, Frost & Sullivan recognizes US-based ... North America Frost & Sullivan Award for New ... technology provider in North America ... standard in the rapidly growing diabetic retinopathy market. ...
(Date:1/27/2016)... , Jan. 27, 2016  Rite Track, Inc. a ... West Chester, Ohio announced today ... service staff, based in Austin, Texas ... ability to provide modifications, installations and technical support offerings ... CEO of PLUS, commented, "PLUS has provided world class ...
(Date:1/21/2016)... PUNE, India , January 21, 2016 /PRNewswire/ ... According to a new market research report "Emotion ... Learning, and Others), Software Tools (Facial Expression, Voice ... and Regions - Global forecast to 2020", published ... Market is expected to reach USD 22.65 Billion ...
Breaking Biology News(10 mins):
(Date:2/10/2016)... , ... February 10, 2016 ... ... today announced that it has joined the Human Vaccines Project, a public-private ... diseases and cancer. , The Human Vaccines Project brings together leading ...
(Date:2/10/2016)... 2016  Allergan plc (NYSE: AGN ) a ... Saunders , Allergan,s CEO and President, will be featured ... at the RBC Capital Markets Healthcare Conference on Tuesday, ... New York Palace Hotel in New York, ... and can be accessed on Allergan,s Investor Relations web ...
(Date:2/10/2016)... ... February 10, 2016 , ... ... states, announced today the promotion of two long-standing principal investigators (PI) to the ... Medicine, Clinical Research and Development. , Dr. Laurence Chu, a Benchmark Research PI ...
(Date:2/10/2016)... ... February 10, 2016 , ... LATHAM, NEW YORK... Marktech Optoelectronics ... Photonics West conference in San Francisco’s Moscone Center from February 16-18, 2016, and ... , These latest InGaAs PIN diode standard packages feature a TO-46 metal can ...
Breaking Biology Technology: