Metabolic Disease Cause and Cure Found

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According the CDG Family Network, “Glycosylation is a process by which all human cells build long sugar chains that are attached to proteins. Together the proteins and their attached sugars are called Glycoproteins. Glycoproteins have many very important functions in the human body and are required for the normal growth and function of all tissues and organs.” CDG develops when something goes wrong with this process. Researchers have identified 19 distinct types of CDG.

“Some children with CDG have serious life-threatening medical problems during their infancy. Mortality in CDG-Ia children is about 20% during the first few years, but they stabilize after childhood. Individuals with CDG require expert medical care, sometimes from multiple subspecialists. Children and adults with CDG have varying degrees of disability, including cognitive impairment, speech difficulties, poor balance and motor skills. As children with CDG- Ia grow older, they exhibit developmental delay, vision problems, seizures, and stroke-like episodes. However, many are conversational with speech impairment and have very charming personalities. Most are wheelchair bound because it is easier and safer for them to get around and they have progressive involvement of their skeleton. Some live at home, some are in assisted living settings.”

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In the current study, discussed in the July 15 online edition of the journal Cell, Dr. Joseph G. Gleeson, M.D., professor of neuroscience and pediatrics at UC San Diego, with Lihadh Al-Gazali, a professor of pediatrics and pathology at the United Arab Emirates University, and others, have discovered the cause to be a gene called SRD5A3. This gene works for the synthesis of a lipid in the process described above. If sugars are not added, proteins do not fold or fold incorrectly causing the gene.

Researchers are really excited about this development because it also leads to a possible cure. A lipid carrier, Dolichol, for glycans used during protein glycosylation, is believed to be a potential daily diet supplement, treating the symptoms. Right now, the lipid is quite expensive because past demand has not been high. However, researchers have discovered that this lipid can be used to fix other problems such as cirrhosis. Gingko, an already used natural compound, may be further extracted for Dolichol and provide a less expensive route than artificial Dolichol.

Reference: CDG Family Network

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