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 connePage: 1 2 Related medicine news :1
. Sex exploitation connected to Schizophrenia 2
. Diet, Sunlight connected to Breast Cancer Risk3
. Mutation connected to Osteoporosis4
. Tobacco and alcohol connected to larger health problems5
. Toxin connected to Flesh-eating Pneumonia in Kids6
. Leptin connected to obesity blood clots7
. Ulcer Surgery connected to danger of Pancreatic Cancer8
. Control of anger disorder connected to Brain Dysfunction9
. Altitude sickness connected to genes10
. Tremors connected to Body Mass Index 11
. Hyperflexible joints connected to chronic fatigue