Health & Medicine
Nuclear Envelope May Hold Key to Defeating Inherited Diseases
Catherine Griffin
First Posted: Feb 26, 2013 02:03 PM EST
Researchers may soon be able to develop treatments for inherited disorders, all with the help of the protective seal that surrounds the DNA of our cells. Scientists have recently discovered that the proteins within this coating, known as the nuclear envelope, vary greatly between different cells in different organs of the body. These new insights could allow them to better target genetic disorders.
Until now, researchers believed that all proteins within the nuclear envelope were the same in every type of organ. Yet now, they've identified the fact that they're different. In particular, the envelope proteins that they have found are specific to muscle that may interact with the defective nuclear envelope protein that causes Emery-Dreifuss muscular dystrophy. This interaction could give rise to the disease.
Emery-Dreifuss muscular dystrophy is a condition that causes muscle wastage and heart problems. It only affects muscles, even though it's caused by a defect in a nuclear envelope protein found in every cell in the body.
The fact that these proteins are actually different may help explain why other heritable diseases only affect certain parts of the body. In addition to the muscle proteins, the study identified nuclear envelope proteins that are specific to the liver and blood. They also found that some of these also interact with proteins in all cells that are responsible for other nuclear envelope diseases, ranging from brain to fat to skin diseases.
Eric Schirmer, the scientist who led the study, said in a press release, "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 regulations."
The study is published in the journal Nucleus.
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First Posted: Feb 26, 2013 02:03 PM EST
Researchers may soon be able to develop treatments for inherited disorders, all with the help of the protective seal that surrounds the DNA of our cells. Scientists have recently discovered that the proteins within this coating, known as the nuclear envelope, vary greatly between different cells in different organs of the body. These new insights could allow them to better target genetic disorders.
Until now, researchers believed that all proteins within the nuclear envelope were the same in every type of organ. Yet now, they've identified the fact that they're different. In particular, the envelope proteins that they have found are specific to muscle that may interact with the defective nuclear envelope protein that causes Emery-Dreifuss muscular dystrophy. This interaction could give rise to the disease.
Emery-Dreifuss muscular dystrophy is a condition that causes muscle wastage and heart problems. It only affects muscles, even though it's caused by a defect in a nuclear envelope protein found in every cell in the body.
The fact that these proteins are actually different may help explain why other heritable diseases only affect certain parts of the body. In addition to the muscle proteins, the study identified nuclear envelope proteins that are specific to the liver and blood. They also found that some of these also interact with proteins in all cells that are responsible for other nuclear envelope diseases, ranging from brain to fat to skin diseases.
Eric Schirmer, the scientist who led the study, said in a press release, "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 regulations."
The study is published in the journal Nucleus.
See Now: NASA's Juno Spacecraft's Rendezvous With Jupiter's Mammoth Cyclone