Scientists discover second gene for disorder described by Darwin

Today, it is difficult to imagine surviving the sweltering heat of summer without a decent cooling system. Inadequate production of sweat, nature's built-in coolant, is just one of the maladies endured by individuals who inherit a rare disorder called hypohidrotic ectodermal dysplasia. Affected children often have very little hair and usually require dentures during early childhood to help them eat normally.

First described by Charles Darwin, it has taken over a century for the genetic basis of this affliction to begin to fall into place. On the heels of the discovery of a mutated X-chromosome gene, researchers at Oregon Health Sciences University (OHSU) and the Baylor College of Medicine have now found another aberrant gene that produces identical symptoms, this one located on chromosome 2. The discovery of a second gene for this disorder improves the prospects for genetic diagnosis, and new insights into gene function may help in developing future therapies.

Dr. Jonathan Zonana from OHSU was a member of the international research team that tracked down the X-chromosome gene, and he is also an integral part of the group that identified the gene on chromosome 2. Zonana, along with Dr. Alex Monreal and colleagues, report their latest discovery in the August issue of Nature Genetics. The research was supported in part by the National Institutes of Health.

The hypohidrotic ectodermal dysplasia story dates back to 1875, when Darwin described a peculiar disorder that appeared in each generation of one family's male members. The mysterious condition became apparent in the very young, manifesting itself with poorly developed teeth, sparse hair on the head and body, and excessively dry skin due to underdeveloped sweat glands. These characteristics were the origin of the disorder's tongue-twister name--"hypohidrotic" referring to low levels of perspiration, and "ectodermal dysplasia" meaning abnormal development of certain tissues derived from embryo

Contact: Wayne Little
NIH/National Institute of Dental and Craniofacial Research

Page: 1 2 3 4

Related biology news :

1. Scientists to prototype cyberinfrastructure for research and education access to ocean observatories
2. Scientists sequence genome of kind of organism central to biospheres carbon cycle
3. Scientists find nanowires capable of detecting individual viruses
4. Scientists discover potential new way to control drug-resistant bacteria
5. Scientists explore genome of methane-breathing microbe
6. Scientists decipher genetic code of biothreat pathogen
7. Stuck on you: Scientists lay bare secrets of bacterial attachment proteins
8. Scientists discover proteins involved in spread of HIV-1 infection
9. Scientists fear new Ebola outbreak may explain sudden gorilla disappearance
10. Scientists reinvent DNA as template to produce organic molecules
11. Scientists visualise cellular handmaiden that restores shape to proteins

Post Your Comments:

(Date:1/28/2020)... SAN ANTONIO (PRWEB) , ... January 28, 2020 ... ... Airrosti ’s methods improve care efficiency, reduce total cost of care, and ... , Airrosti, a large healthcare provider group headquartered in San Antonio, Texas specializes ...
(Date:1/24/2020)... ... ... Worldwide Business with kathy ireland® has announced an exclusive interview with ... and Marketing Jeff Maier to discuss their innovative technology, High-Speed Vibration Therapy. The segment ... at 5:30 p.m. EST and internationally on Bloomberg Television on Saturday, Jan. 25, 2020 ...
(Date:1/22/2020)... Texas (PRWEB) , ... January 21, 2020 , ... Lifecycle Biotechnologies announces the ... specific to each users’ unique needs based on their process requirements and accurately weighed to ... Buffers , Salts , Sugars , Carbohydrates , ...
Breaking Biology News(10 mins):
(Date:2/21/2020)... ... February 21, 2020 , ... ... manufacturing operations in order to adapt to new approaches like ‘Industry 4.0’ and ... increasing demand for personalized medicine and therapies. But with an industry with the ...
(Date:2/13/2020)... DUBLIN (PRWEB) , ... February 12, 2020 , ... ... affairs, and pharmacovigilance (PV) solutions and services, is adopting Veeva Vault Safety™ ... databases are a requirement for fast assessment of data, processing of safety information ...
(Date:2/5/2020)... , ... February 04, 2020 , ... ... for characterizing microbiome populations down to the strain level, has announced a new ... Shoreline Biome’s microbiome kits and other products to companies and research organizations in ...
(Date:1/28/2020)... (PRWEB) , ... January 28, 2020 , ... ... to be the exclusive distributor to food and beverage manufactures within North America. ... considered critical suppliers. This agreement will allow each company to pool their collective ...
Breaking Biology Technology:
Cached News: