Cell discovery could hold key to causes of inherited diseases

Fresh insights into the protective seal that surrounds the DNA of our cells could help develop treatments for inherited muscle, brain, bone and skin disorders.

Researchers have discovered that the proteins within this coating – known as the – vary greatly between cells in different organs of the body.

This variation means that certain disease causing proteins will interact with the proteins in the protective seal to cause illness in some organs, but not others.

Until now scientists had thought that all proteins within the nuclear envelope were the same in every type of organ.

In particular the finding may provide insights into a rare muscle disease, Emery-Dreifuss muscular dystrophy.

This condition causes muscle wastage and , affects only muscles, even though it is caused by a defect in a nuclear found in every cell in the body.

Scientists say that the envelope proteins they have identified as being specific to muscle may interact with the defective nuclear envelope protein that causes Emery-Dreifuss muscular dystrophy, to give rise to the disease.

In a similar way, this may help to explain other heritable diseases that only affect certain parts of the body despite the defective proteins being present in every cell. The study also identified nuclear envelope proteins specific to liver and blood.

Some of these also interact with proteins in all cells that are responsible for other nuclear envelope diseases, ranging from brain and fat to , and so may help explain why things go wrong.

Dr Eric Schirmer, of the University of Edinburgh's Wellcome Trust Centre for , who led the study said: "Nobody could have imagined what we found.

The fact that most proteins in the nuclear envelope would be specific for certain tissue types is a very exciting development. This may finally enable us to understand this ever-growing spectrum of inherited diseases as well as new aspects of tissue-specific gene regulation."

The findings build on previous research that showed proteins in the nuclear envelope are linked to more than 20 heritable diseases.

More information: The study is published in the journal Nucleus.

Related Stories

DNA 'off switch' may reverse premature aging

Jun 15, 2011

The secret to preventing or reversing premature aging may be found in a DNA “off switch” that humans share with common yeast, according to new research from the University of Toronto.

Programming cells: The importance of the envelope

Feb 01, 2013

In a project that began with the retinal cells of nocturnal animals and has led to fundamental insights into the organization of genomic DNA, researchers from Ludwig-Maximilians-Universitaet (LMU) in Munich show how the nuclear ...

Scientists describe mechanism for rare muscle disease

Oct 03, 2011

(Medical Xpress) -- A team of scientists from the Friedrich Miescher Institute for Biomedical Research and the Hebrew University of Jerusalem describe in C. elegans the process leading to a rare form of Emery-Dreifuss ...

Recommended for you

Leeches help save woman's ear after pit bull mauling

Apr 18, 2014

(HealthDay)—A pit bull attack in July 2013 left a 19-year-old woman with her left ear ripped from her head, leaving an open wound. After preserving the ear, the surgical team started with a reconnection ...

New pain relief targets discovered

Apr 17, 2014

Scientists have identified new pain relief targets that could be used to provide relief from chemotherapy-induced pain. BBSRC-funded researchers at King's College London made the discovery when researching ...

User comments