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MPS Society – Metartec’s charity of the month

08 November 2017

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Metartec’s charity of the month for November is MPS Society which has been chosen by our sales director, Stuart.  


Why the MPS Society?
MPS society is special to me because my son Oliver has MPS III and we are committed to promote greater awareness of MPS conditions. Anything we can do to fund research for children and young adults is our number one priority.

About the MPS Society
Founded over 30 years ago by Christine Lavery, the MPS Society is the only registered UK charity providing professional support to individuals, families and professionals affected by MPS and related diseases throughout the UK.

Supported by senior management and staff, an experienced and skilled team work across a range of areas including advocacy support, fundraising, finance, event management and administration. This also includes patient access to clinical trials, supporting over 1200 families and individuals in all aspects of social care, as well as access to special educational needs and clinical management.

Mucopolysaccharide diseases are rare Lysosomal Storage Diseases, sometimes referred to as MPS I-VII, or more commonly by the name of the doctor who first described the condition.

What is MPS III?
Sanfilippo Disease is a Mucopolysaccharide storage disorder, also known as Mucopolysaccharidosis Type III. The disease takes its name from Dr. Sanfilippo who was one of the first doctors from the United States to describe the condition in 1963.

Although there is no cure for MPS diseases, there are ways of managing and treating the problems they cause.


What causes this disease?
Mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body.


·       
“saccharide” is a general term for a sugar molecule (think of saccharin)
·        “poly” means many
·        “muco” refers to the thick jelly-like consistency of the molecules

In the course of normal life, there is a continuous recycling process of building new Mucopolysaccharides and breaking down old ones. This process requires a series of biochemical tools called enzymes. Individuals with MPS III are missing an enzyme which is essential in cutting up the used Mucopolysaccharides. Incompletely broken down Mucopolysaccharides remain stored inside parts of the cells called lysosomes. The lysosomes become swollen and disrupt cell functioning causing progressive damage.

Babies may show little sign of the disease but symptoms start to appear as more and more cells become damaged by the accumulation of Mucopolysaccharides.

How common are these diseases?
The MPS Society, which co-ordinates the Registry for Mucopolysaccharide and Related Diseases, has shown that MPS III is a rare condition affecting one in 85,000 live births. Over a ten-year period between 1988 and 1998, 97 babies were born with MPS III in the United Kingdom.

How is the disease inherited?

MPS III is an autosomal recessive disease whereby both parents must carry the same defective gene and each pass this same defective gene to their child. Where both parents are carriers of the MPS III gene there is a 25% (1:4) chance of having an affected child in each pregnancy.

There is a 50% (1:2) chance of a child receiving only one copy of the defective gene and therefore being a carrier. A carrier will not be affected but can pass the defective gene to his/her offspring.

The remaining 25% (1:4) will be neither affected nor a carrier. Using information from an affected individual’s DNA, it may be possible to determine whether brothers and sisters are carriers of, or if they are affected by MPS III.


For more information, please visit the MPS Societies website or any of their social media channels.

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