Tay-Sachs, Gaucher and Fabry | Action Medical Research

Touching Lives - March 2003

Tay-Sachs, Gaucher and Fabry

About 10,000 people worldwide are thought to suffer from severe storage diseases such as Tay-Sachs, Gaucher and Fabry. These glycosphingolipid storage diseases are a group of debilitating conditions affecting both children and adults.

In each case an accumulation of chemicals occurs in the body’s cells and results in cell dysfunction. In many cases the result is death in early infancy as a result of rapid neurodegeneration.

Perhaps the best known of these disorders is Tay-Sachs disease which primarily affects Jewish children. Babies are born without showing signs of the disease but symptoms appear in infancy and progress from developmental retardation to paralysis, dementia and blindness. Children affected rarely live beyond their third birthday and are usually not suited to therapies such as bone marrow transplants.

Monitoring patients

Funded by Action Medical Research, a team based at Oxford University is now developing a process called an assay, to enable the monitoring of patients to see if new treatments being given have a beneficial effect.

Because of the neurological nature of the diseases, monitoring what goes on in the brain has always been difficult. This new technique studies the transport of lipids (fats that are essential to maintain the structure of cells) in the body’s cells, ‘tracking’ their progress and making diagnosis and monitoring possible through blood tests.

Dr Fran Platt, who is working on the project with colleagues Dr Dan Sillence and Ms Danielle te Vruchte explained: “We had to come up with ways of looking for changes in cells that might indicate what is happening in the brain.

“We are looking at how lipids are transported in the cells — a sign of these diseases are lipids that basically end up in the wrong place. We can use these ‘marker cells’ to show if a person has the condition and whether or not a treatment is countering disease progression. A therapy that is working will correct the lipid distribution.”

This traffic of lipids had been studied before, but its application in conditions such as Tay Sachs has not been fully investigated. The glycosphingolipid storage diseases are rare and funding has been scarce, so the Action Medical Research grant of £121,000 has been vital to the team, who are based in the Glycobiology Institute in the University’s Department of Biochemistry.

Dr Platt told Touching Lives: “^It’s early days but the research is going well.^ We have been able to get the technologies up and running and show the altered traffic of lipids.

Rare conditions

“The money from Action Medical Research has really made all the difference. These are rare conditions and when it comes to funding, the priority is on conditions that affect many more people. But to have a child afflicted in this way is devastating for the family.

“If we find a tracking technique that works for one of these conditions, it should work for them all, because they are all very similar.”

Ultimately the team is hoping to develop approaches that will slow the progress of these metabolic diseases. There is an adult variant of some of the conditions and it may be possible to convert the less severe childhood form to the adult variant, enabling affected youngsters to have a longer, and better quality, life.

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