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:10/13/2017)... , ... October 13, 2017 , ... As health professionals ... known as “patient engagement.” The patient is doing more than filling out a survey; ... , “There is an increasing emphasis in health care and research on the importance ...
(Date:10/13/2017)... ... 13, 2017 , ... The American Board of Family Medicine's (ABFM) Board of ... Executive Officer, succeeding Dr. James C. Puffer upon his retirement. Dr. Newton will serve ... Puffer’s retirement at the end of 2018. Upon assuming the role of President and ...
(Date:10/13/2017)... , ... October 13, 2017 , ... PurhealthRX , ... Oil utilizing Purzorb™ technology. Applying the Purzorb™process to full spectrum CBD oil will revolutionize ... providing a CBD form that can be easily incorporated into liquid products, while reducing ...
(Date:10/13/2017)... ... October 13, 2017 , ... Lori R. Somekh, founder of the Law ... organization of elder law and special needs planning attorneys. “Membership in ElderCounsel helps our ... a forum to network with elder law attorneys nationwide,” said Somekh. , ...
(Date:10/13/2017)... ... , ... Many families have long-term insurance that covers care for a family ... for care if the client has a cognitive impairment diagnosis. , “What this ... often waived, so the benefits from their insurance start immediately,” said Mechell Vieira, owner ...
Breaking Medicine News(10 mins):
(Date:9/27/2017)... for their devotion to personalized service, SMP Pharmacy Solutions announces ... the South Florida Business Journal,s 50 Fastest-Growing Companies, and listed ... national specialty pharmacy has found its niche.  To that end, ... honored by SFBJ as the 2017 Power Leader in Health ... his award in October, Bardisa said of the three achievements, ...
(Date:9/25/2017)... , Sept. 25, 2017  EpiVax, Inc., ... vaccine design, and immune-engineering today announced the launch ... the development of personalized therapeutic cancer vaccines. EpiVax ... provided exclusive access to enabling technologies to the ... MBA will lead EpiVax Oncology as Chief Executive ...
(Date:9/22/2017)... 2017 AVACEN Medical (AVACEN) announced that its ... helping those with the widespread pain associated with fibromyalgia ... in Essex, England commented, "I ... experiencing no sleep at all, tremendous pain, with every ... recommend [the AVACEN 100] enough, how this has and ...
Breaking Medicine Technology: