Navigation Links
Gene connected to Multi-System disorder discovered

A complex and rare disorder that affects many systems of the body, called oculodentodigital dysplasia, has been found to be the result of faulty cell communication. This syndrome is said to affect various body structures including the eyes, face, teeth and fingers and can also cause hearing loss, heart trouble// and neurological problems. A Hopkins-led research team, which studied the genetic samples and medical histories from 17 families with the syndrome, has discovered that changes in a gene called connexin 43 are to blame for the disorder.

Researchers have expressed astonishment at the delay in linking a connexin gene to the disorder which affects so many body systems as connexin 43 and related genes are present in many tissues during development. However, they also add that until now problems with connexins had only been tied to simpler manifestations.

Connexins are a family of roughly 20 genes, best known for creating connections between cells, bridging space called a "gap junction". When connexins on one cell interact with connexins on a neighboring cell, the result is a direct line of communication.

The study involved 17 families in the United States, the Netherlands, Norway and Turkey, and 100 additional people. Scientists suspected the involvement of connexin 43 in the disorder since the gene is turned on in fetal development in a pattern that reflects the problems seen in oculodentodigital dysplasia. They therefore determined the sequence of its building blocks in affected and unaffected members of the 17 families. The researchers reported that only people with the disorder had changes in connexin 43. The researchers also reported that though a different change, or mutation, in the gene was found in each of the 17 families,all changes altered the instructions to make the connexin 43 protein. However, the exact effect of the changes on the protein are yet to be studied.

Scientists suggest that problems with conne xin genes (and the proteins made from their instructions) have already been tied to a number of inherited conditions involving deafness or peripheral neuropathy because of their widespread presence in cells during critical developmental periods. Researchers, during the course of this study, have also helped identify a faulty connexin gene as the cause of a skin and deafness disorder known as "KIDS" (for keratitis, ichthyosis and deafness syndrome), while previous findings by others have linked a connexin to Charcot-Marie-Tooth disease.

The researchers concluded that other genes - possibly even other connexins or environmental factors could also account for the variety of effects seen in patients.


'"/>




Related medicine news :

1. Sex exploitation connected to Schizophrenia
2. Diet, Sunlight connected to Breast Cancer Risk
3. Mutation connected to Osteoporosis
4. Tobacco and alcohol connected to larger health problems
5. Toxin connected to Flesh-eating Pneumonia in Kids
6. Leptin connected to obesity blood clots
7. Ulcer Surgery connected to danger of Pancreatic Cancer
8. Control of anger disorder connected to Brain Dysfunction
9. Altitude sickness connected to genes
10. Tremors connected to Body Mass Index
11. Hyperflexible joints connected to chronic fatigue
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:8/22/2017)... ... ... “Call Of Spiritual Duty”: a revelation in an era defined by intentional ... Growing up on the streets of North Visalia, California, Carlos Lizarde quickly became familiar ... keys to his life, he noticed immediately that opportunities and blessings began to shift ...
(Date:8/21/2017)... ... August 22, 2017 , ... Nanoparticle research provides an exciting ... By learning and implementing best practices for containment using ventilated safety enclosures, many ... gain a better understanding of a method for safely testing nanotechnology hoods. They ...
(Date:8/21/2017)... ... August 21, 2017 , ... FCPX LUT Monochromatic Volume 2 is ... and easily add washed color grades to footage. A LUT is a Lookup Table ... color to the corresponding color indicated by the table. This pack comes with 60 ...
(Date:8/21/2017)... ... August 21, 2017 , ... ... place all over the country. , Outdoor running increases exposure to ultraviolet radiation, ... an increased risk of melanoma, and only half may be adequately protecting themselves ...
(Date:8/21/2017)... New York, NY (PRWEB) , ... August 21, 2017 , ... ... healthcare brands, was recently named one of the Top 100 agencies of the year ... list in MM&M’s annual agency issue, marking an important milestone for the agency. ...
Breaking Medicine News(10 mins):
(Date:8/7/2017)... GAITHERSBURG, Md. , Aug. 7, 2017 /PRNewswire/ ... for healthcare member acquisition, retention, and engagement, announced ... Director of Strategy and Product Development, effective as ... strategic consulting and technology implementation strategy for our ... years of experience in consulting and business analytics ...
(Date:8/4/2017)... , Aug. 4, 2017 The search ... shortly after a physician/patient consult has long been the ... was a notable focus of the largest meeting of ... according to healthcare market research firm Kalorama Information.  The ... testing (POCT) offerings or related supplies and software were ...
(Date:8/2/2017)... 2, 2017  Life Flight Network and PeaceHealth Oregon Network ... patient care and operational efficiency for patients at hospitals in ... Cottage Grove , and Florence, ... and Life Flight Network work collaboratively to move patients who ... when a time sensitive emergency exists. ...
Breaking Medicine Technology: