Navigation Links
U-M researchers identify gene mutation that causes rare form of deafness
Date:7/12/2010

Ann Arbor, Mich. Researchers have identified a gene mutation that causes a rare form of hearing loss known as auditory neuropathy, according to U-M Medical School scientists.

In the study published online today in the Proceedings of the National Academy of Sciences USA, U-M's Marci Lesperance, M.D., and Margit Burmeister, Ph.D. led a team of researchers who examined the DNA of individuals from the same large family afflicted with the disorder.

The researchers identified a mutation in the DIAPH3 gene that causes over-production of a compound known as a diaphanous protein. In previous studies, hearing loss has been linked to a related gene that also affects a diaphanous protein.

Currently, diagnosing auditory neuropathy requires specific testing. Auditory neuropathy may be unrecognized if testing is not performed early in life.

"Since we previously knew of only two genes associated with auditory neuropathy, finding this gene mutation is significant," says Lesperance, professor in U-M's Department of Otolaryngology and chief of the Division of Pediatric Otolaryngology.

"This discovery will be helpful in developing genetic tests in the future, which will be useful not only for this family, but for all patients with auditory neuropathy," Lesperance says.

To investigate the role of these compounds in auditory function, the authors engineered a line of fruit flies that expressed an overactive diaphanous protein in the insects' auditory organ. Using sound to induce measurable voltage changes, Frances Hannan of New York Medical College determined that the flies' hearing was significantly degraded compared to normal flies.

Burmeister says finding the genes causing such rare disorders is very difficult because researchers cannot look at many different families, and instead have to rely on a single family that is often not large enough. But in this study, the researchers used a multi-pronged approach. Rather than relying purely on genetic inheritance information, they combined this information with biological function regarding gene activity.

"The approach we used here of combining genetic inheritance with functional information can be applied to identify the culprit genes in many other rare genetic diseases that have so far been impossible to nail down," says Burmeister, professor of Psychiatry and Human Genetics.

"We can now say we have a tool by combining several genomic approaches to find these genes."


'/>"/>

Contact: Mary F. Masson
mfmasson@umich.edu
734-764-2220
University of Michigan Health System
Source:Eurekalert

Related medicine news :

1. MIT researchers find that Sirtuin1 may boost memory and learning ability
2. Researchers identify factors behind blood-making stem cells
3. Parkinsons Transplant Mystery Solved, Researchers Say
4. Researchers suggest new paradigm for breast cancer screening
5. Of lice and man: Researchers sequence human body louse genome
6. AcademyHealth honors leading health services researchers
7. UCLA researchers, US military collaborate to open center for traumatic brain injury
8. UCSD researchers receive $2.5 million in new stem cell grants
9. Researchers find key to getting estrogens benefits without cancer risk
10. Mount Sinai researchers find structural basis for incidence of skin cancers in a genetic disorder
11. WSU researchers find mothers of children with autism pay price in workplace
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/26/2016)... Aliso Viejo, California (PRWEB) , ... June 26, 2016 , ... ... for Final Cut Pro X. , "Film editors can give their videos a whole ... artistically," said Christina Austin - CEO of Pixel Film Studios. , ProSlice Levels ...
(Date:6/26/2016)... ... ... Kasmer, a legally blind and certified personal trainer is helping to develop a weight loss ... plans to fix the two major problems leading the fitness industry today:, ... , They don’t eliminate all the reasons people quit their exercise program ...
(Date:6/25/2016)... Washington, D.C. (PRWEB) , ... June 25, 2016 ... ... will discuss health policy issues and applications at AcademyHealth’s Annual Research Meeting June ... share their work on several important health care topics including advance care planning, ...
(Date:6/25/2016)... ... , ... The temporary closing of Bruton Memorial Library on June 21 due to a possible ... often overlooked aspect of head lice: the parasite’s ability to live away from a human ... but a necessary one in the event that lice have simply gotten out of control. ...
(Date:6/25/2016)... ... June 25, 2016 , ... First Choice Emergency Room , the largest ... as the Medical Director of its new Mesquite-Samuell Farm facility. , “We are ... Mesquite location,” said Dr. James M. Muzzarelli, Executive Medical Director of First Choice Emergency ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... , June 23, 2016 Research ... "Pharmaceutical Excipients Market by Type (Organic Chemical (Sugar, Petrochemical, ... (Oral, Topical, Coating, Parenteral) - Global Forecast to 2021" ... The global pharmaceutical excipients market is ... a CAGR of 6.1% in the forecast period 2016 ...
(Date:6/23/2016)... , June 23, 2016 ... CAPR ), a biotechnology company focused on the ... announced that patient enrollment in its ongoing randomized ... has exceeded 50% of its 24-patient target. Capricor ... the third quarter of 2016, and to report ...
(Date:6/23/2016)... INDIANAPOLIS , June 23, 2016 ... Tomorrow,s Leaders Scholarship is any indication, the future is ... online at www.diabetesscholars.org by the Diabetes Scholars ... in the way of academic and community service excellence. ... program since 2012, and continues to advocate for people ...
Breaking Medicine Technology: