Beyond Biotech 45 Podcast: International MPS Awareness Day

This week’s podcast is sponsored by Amount.

International MPS Awareness Day

May is a big month when it comes to awareness – there are nearly 100 months, weeks and days of awareness marked out.

Some of these are well-known conditions. However, the others are less prominent.

International MPS Awareness Day (mucopolysaccharidosis) takes place on 15 May.

According to National MPS Association in the US, mucopolysaccharidosis (MPS) and mucolipidosis (ML) are genetic lysosomal storage diseases (LSD) caused by the body’s inability to produce certain enzymes.

Missing or insufficient enzymes prevent cells from recycling waste, resulting in storage of material in cells throughout the body. As the disease progresses, widespread damage occurs throughout the body, including the heart, bones, joints, respiratory system, and central nervous system, leading to shortened life.

There are 12 different forms of MPS.

For example, MPS I covers Hurler’s Syndrome, Scheie’s Syndrome and Hurler-Scheie’s Syndrome, while MPS II covers Hunter’s Syndrome.

Hurler Syndrome takes its name from Gertrude Hurler, the doctor who described boys and girls with the condition in 1919. In 1962, Dr. Scheie, a consultant ophthalmologist, wrote of patients who were less affected. Individuals who do not match the severe or mild end of the disease are said to have Hurler/Scheie. Disease-specific names have been replaced with the designations attenuated (reduced severity) and severe MPS I. MPS I has a variety of symptoms that vary in severity and can be managed and treated with enzyme replacement therapy. There is no cure for MPS I.

Mucopolysaccharides are chains of sugar molecules that are used to build connective tissue in the body. MPS I patients are deprived of the enzyme alpha-L-iduronidase, which is important in breaking down the mucopolysaccharides dermatan sulfate and heparan sulfate. These materials remain deposited in the body’s cells, causing progressive damage. Babies may show few signs of illness, but as cells are damaged, symptoms begin to appear.

Talking about disease, treatment, research, and the future prognosis for people with MPS, is Dr. Matthew Ellinwood, chief scientific officer at the National MPS Society.