Grim reason some may be fast gainers
A genetic disorder called EDS may cause some people to have abnormally weak connective tissue. I wonder whether any of our big gainers have it?
Ehlers-Danlos syndrome (EDS) refers to a group of disorders linked by genetic defects that affect collagen structure and function. Collagen is a major protein in the body and forms the base foundation for connective tissues. Owing to a genetic defect in collagen manufacture, tissues affected are abnormally weak, depending on the specific genetic defect. Major symptoms can include skin fragility, excessive skin stretchability, and excessively loose joints. Some types of EDS are characterized by fragile blood vessels or abnormal spine curvature.
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 EDS. EDS 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 EDS is autosomal dominant, an individual who inherits it will develop the symptoms of EDS. If the defective gene is autosomal recessive, the individual will not develop symptoms of EDS, as long as the other gene is normal.
Causes & symptoms
EDS is caused by a defect in one of the genes involved in collagen production. Some types of EDS are known to be related to a genetic flaw because of the observed inherited pattern, but the exact defect may not be identified.
Classification of EDS types was revised in 1997. The new classification is simpler and based more on descriptions of the actual symptoms. EDS is now classified into six major types: classical, hypermobility, vascular, kyphoscoliosis, arthrochalasia, and dermatosparaxis, and a collection of rare or poorly defined varieties.
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