EHLERS DANLOS SYNDROME
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Collagen is a strong, fibrous protein
that lends strength and elasticity to connective tissues such as the
skin, tendons, organ walls, cartilage, and blood vessels. Each of
these connective tissues requires collagen tailored to meet its
specific purposes. The many roles of collagen are reflected in the
number of genes dedicated to its production. There are at least 28
genes in humans that encode 16 different types of collagen. Defects
in these genes can affect basic construction as well as the fine-tuned
processing of the collagen.
According to the Ehlers-Danlos National Foundation, 1 in 5,000 to 1
in 10,000 people are affected by some form of Ehlers Danlos Syndrome. Ehlers Danlos Syndrome is an
inherited disease, and its pattern depends on the affected gene.
There are three types of inherited patterns: autosomal dominant,
autosomal recessive, and X-linked (extremely rare).
Because chromosomes are inherited in pairs, each individual receives
two copies of the same gene. (The sex chromosomes are an exception,
because males inherit one copy each of the X and the Y chromosome;
females inherit two copies of the X chromosome.) In many cases, only
one of the two genes is expressed. The gene that is expressed is
referred to as the dominant gene; the gene that is not expressed is
referred to as the recessive gene.
If the defective gene in Ehlers Danlos Syndrome is autosomal dominant, an individual
who inherits it will develop the symptoms of Ehlers Danlos Syndrome. If the defective
gene is autosomal recessive, the individual will not develop
symptoms of Ehlers Danlos Syndrome, as long as the other gene is normal. |
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| EHLERS DANLOS SYNDROME RELATED ITEMS |
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