Wolfram Syndrome is an autosomal recessive genetic disorder in that the mother and the father each pass two copies of the gene down to the child that can cause:
Wolfram syndrome is thought to occur when there are changes in the cells proteins called wolframin, which control the calcium levels in our cells.
An efficient calcium balance is important for many different cellular functions, including cell-to-cell communication, the tensing (contraction) of muscles, and protein processing.
The wolframin protein is found in many different tissues, such as the ears, eyes, pancreas, brain, heart, bones, muscles, lungs, liver, and kidneys.
Cause
Changes in WFS1 gene or WFS2 (CISD2) gene (gene is the basic physical and functional unit of heredity. Genes are made up of DNA. Some genes act as instructions to make molecules called proteins) in this case it provides instructions for producing a protein called wolframin that is thought to regulate the amount of calcium in cells.
Wolfram syndrome 2 results from a mutation in the CISD2 gene that produces or instructs an abnormal protein which impairs mitochondrial functions (the energy source for each living cell).
Family history-autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting FMF), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).
Eye vision problems and blindness: the optic nerve is wasting away (the optic nerve sends electrical signals to the brain from they eye) and causes colour blindness and gradual loss of vision?
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Wolfram Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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