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Breakthrough made in cause of inherited diseases research

28th May 2013

Treatments for inherited muscle, bone, brain and skin disorders could be one step closer after a research project into the composition of cells was able to provide fresh insights into the protective seal that surrounds the DNA of our cells.

Researchers have said that the findings could help those with Emery-Dreifuss muscular dystrophy in particular, a muscle-wasting condition which leads to care at home and the frequent use of stair lifts or homelifts to aid mobility. The condition is caused by a defect in the nuclear envelope protein found in every cell throughout the body, yet only affects muscles, and insight into this protein could result in the development of future treatments.

Dr Eric Schirmer, leader of the study, has worked on the project with his team at the University of Edinburgh's Wellcome Trust Centre for Cell Biology and, after completing the project, he said that "Nobody could have imagined what we found". The university collaborated with the Stowers Institute for Medical Research for the study, which has now been published in the scientific journal Nucleus.

The study revealed that the proteins within the coating of cells, otherwise known as the nuclear envelope, varies significantly between cells in different organs of the body. This difference means that certain proteins that cause diseases interact with the proteins in the protective seal, thus causing illness and disease in some organs without affecting others.

Until these findings emerged, scientists believed that all the proteins within the nuclear envelope were the same in every organ, meaning that conditions such as Emery-Dreifuss muscular dystrophy can be better understood by medical professionals and researchers. Dr Eric Schirmer went on to say that these findings will help them understand the "ever-growing spectrum of inherited diseases" and "new aspects of tissue-specific gene regulation".

This research into the coating of cells and the differences within them could help provide more information about other inherited diseases which only affect certain parts of the body despite the defective proteins existing in all cells. The study managed to identify specific nuclear envelope proteins for liver and blood as well as for muscle, providing a great deal of promise for more research into these three areas.

Those who need to use chairs for the elderly because of conditions which affect the muscles could possibly see the benefits of this discovery in a few years after the findings lead on to further research. Until then, mobility aids and healthcare professionals can provide a great deal of help.


Image Credit: Milosz1 (

This news article is from Handicare UK. Articles that appear on this website are for information purposes only and are up to date as of the time of publishing