Cockayne Syndrome News and Articles
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What is Cockayne syndrome?
Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), small head size (microcephaly), impaired development of the nervous system, and an abnormal sensitivity to sunlight (photosensitivity). Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, and problems with internal organs.Cockayne syndrome can be divided into subtypes, which are distinguished by the severity and age of onset of symptoms. Classical, or type I, Cockayne syndrome is characterized by an onset of symptoms in early childhood (usually after age 1 year). Cockayne syndrome, type II is an early-onset form with severe symptoms that are apparent at birth (congenital). Type II Cockayne syndrome is sometimes called cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome type II. A few cases of type III Cockayne syndrome, which has mild symptoms and onset in late childhood, have been reported. Some individuals have combined features of Cockayne syndrome and another photosensitivity disorder called xeroderma pigmentosum, which is characterized by a wide range of skin changes, from mild freckling to skin cancer.
How common is Cockayne syndrome?
The prevalence of Cockayne syndrome is unknown. It probably occurs in fewer than 1 in 100,000 individuals.What genes are related to Cockayne syndrome?
Mutations in the ERCC6 and ERCC8 genes cause Cockayne syndrome.The ERCC6 and ERCC8 genes provide instructions for making proteins that are involved in repairing damaged DNA. If either gene is altered, DNA damage is not rapidly repaired. As a result, damaged DNA accumulates, which probably leads to impaired cell functions and eventually, cell death. Increased cell death likely contributes to features of Cockayne syndrome such as growth failure and premature aging.
How do people inherit Cockayne syndrome?
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.Source: National Institutes of Health
Recent Cockayne Syndrome News and Articles
- Data on Peptides and Proteins Described by P. Latini et al
- Report Summarizes Cell Biology Study Findings from University of Naples
- Reports from University of Basel Describe Recent Advances in Enzymes and Coenzymes
- Research from Medical Center Yields New Findings on Cockayne Syndrome
- Researchers from University of Naples Report on Findings in DNA-Binding Proteins
New Cockayne Syndrome Research from University of Pennsylvania Described
2011 NOV 21 -- "The Cockayne syndrome complementation group B (CSB) protein is an ATP-dependent chromatin remodeler with an essential function in transcription-coupled DNA repair, and mutations in the CSB gene are associated with Cockayne syndrome. The p53 tumor suppressor has been known to interact with CSB, and both proteins have been implicated in overlapping biological processes, such as DNA repair and aging," scientists in Philadelphia, Pennsylvania report."The significance of the interaction between CSB and p53 has remained unclear, however. Here, we show that the chromatin association of CSB and p53 is inversely related. Using in vitro binding and chromatin immunoprecipitation approaches, we demonstrate that CSB facilitates the sequence-independent association of p53 with chromatin when p53 concentrations are low and that this is achieved by the interaction of CSB with the C-terminal region of p53. Remarkably, p53 prevents CSB from binding to nucleosomes when p53 concentrations are elevated. Examining the enzymatic properties of CSB revealed that p53 excludes CSB from nucleosomes by occluding a nucleosome interaction surface on CSB," wrote R.J. Lake and colleagues, University of Pennsylvania.
The researchers concluded: "Together, our results suggest that the reciprocal regulation of chromatin access by CSB and p53 could be part of a mechanism by which these two proteins coordinate their activities to regulate DNA repair, cell survival, and aging."
Lake and colleagues published their study in the Journal of Biological Chemistry (Reciprocally Regulated Chromatin Association of Cockayne Syndrome Protein B and p53 Protein. Journal of Biological Chemistry, 2011;286(40):34951-34958).
For additional information, contact R.J. Lake, University of Pennsylvania, Dept. of Biochemistry & Biophysics, Perelman School Med, Philadelphia, PA 19104, United States.
The publisher's contact information for the Journal of Biological Chemistry is: American Society Biochemistry Molecular Biology Inc., 9650 Rockville Pike, Bethesda, MD 20814-3996, USA.
Keywords: City:Philadelphia, State:Pennsylvania, Country:United States, Region:North and Central America, Dwarfism, Genetics, Peptides, Chemicals, Neurology, Proteomics, Amino Acids, DNA Research, Bone Diseases, Nucleoproteins, Intranuclear Space, Metabolic Diseases, Chromosome Structures, Deoxyribonucleic Acid
This article was prepared by Health & Medicine Week editors from staff and other reports. Copyright 2011, Health & Medicine Week via NewsRx.com.
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