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:6/28/2017)... ... June 28, 2017 , ... Hayes, Inc., a leading ... the guest speaker lineup* for its second annual Client Symposium. Joining the symposium ... Dr. Keith Fernandez of Privia Health; and Lisa Tourville of Anthem. , ...
(Date:6/28/2017)... ... ... American Farmer proudly announces the participation of Pure Line Seeds, Inc (Pure Line ... fourth quarter 2017. American Farmer airs Tuesdays at 8:30aET on RFD-TV. , Founded in ... demand grew, the small company located in Moscow, Idaho extended its sales from Northern ...
(Date:6/28/2017)... ... June 28, 2017 , ... Designers Insurance ... communities in northern Virginia and DC, is announcing a cooperative charity event in ... Alzheimer’s and other disorders that lead to memory impairment. , The Insight Memory ...
(Date:6/27/2017)... ... ... Harbour , a DAO (decentralized autonomous organization) that harnesses the wisdom of ... technical specifications . , 2017 has seen an explosion of token launches by blockchain ... will garner the greatest ROI. Dean Eigenmann, Co-founder and CEO of Harbour, said, “We ...
(Date:6/27/2017)... (PRWEB) , ... June 27, 2017 , ... A January ... been projected to reach a staggering $6.81 billion by the year 2024 according to ... at a faster rate than those made from titanium. Los Angeles area clinic Beverly ...
Breaking Medicine News(10 mins):
(Date:6/12/2017)... Kineta, Inc., a biotechnology company focused on the development of ... R&D and Head of Virology Kristin Bedard has been invited ... and Beyond meeting sponsored by Life Science Washington.  This ... AM PDT at the Agora Conference Center in ... be joined by other leaders in infectious disease research and ...
(Date:6/9/2017)... , June 9, 2017 More than ... further effort to help spread lessons learned from clinical ... International Diabetes Federation (IDF) and Eli Lilly and Company ... the second phase of the Bringing Research in Diabetes ... their commitment to helping people with diabetes effectively manage ...
(Date:6/7/2017)... , June 7, 2017 Endo International ... June 7, 2017, the Hon. Joseph R. Goodwin ... of West Virginia , entered a ... Inc. Pelvic Repair System Products Liability Litigation (the "MDL") ... MDL cases to provide expert disclosures on specific causation ...
Breaking Medicine Technology: