Funding HSP Research

Posted - June 2012 in HSPRF News

How far HSP research has come

Mark Weber of the SP Foundation in the US writes about how far HSP research has come, together with the need for, and the value of, continued funding.

In the last 15 years, 52 gene loci have been found that, when mutated, can cause HSP. Over 20 genes associated with HSP have been discovered. Research on the proteins created by these genes is making great progress. Results are literally being published every week or two. Over 12 research labs around the world are working on this.

 

I’ve heard some people say, why do scientists need to understand what HSP-related genes do? Why can’t they forget about that and just develop a cure?

To answer, let me use an analogy.

Suppose you had a 15 year-old jet plane. It wouldn’t start. How could you get it to start? If you knew absolutely nothing about jet planes, you could simply replace each part, one at a time without ever understanding what any part did. This would take an extremely long time and cost a fortune.

Alternatively, you could learn about the systems involved in starting the jet engines. Learning this would also take time. But the information is out there. People KNOW how to make jets and what each part does. You’d learn the info and then focus on the areas involved in starting the engines — computer systems, wiring, fuel system, the engines themselves. You’d then check each one to look for a malfunction. Once you find the defective system, and later the defective part, you’d look for a way to fix it.

Well, scientists have looked for what causes HSP for well over 15 years. They are “genes”. HSP-related genes that are mutated cause HSP. Mutated genes create defective proteins in cells. Proteins do the actual work inside the cells that comprise our bodies. A defective protein somehow doesn’t get a job done, or is toxic to the cell.

Unlike the problem with a jet plane, where jet plane mechanics understand every part in the plane, most of the proteins in the cells in our bodies are not understood. The task scientists have is to learn what an HSP-related protein’s job is, and then how a defect in that protein causes HSP. Once scientific understanding of an HSP-related protein has sufficiently developed, work begins on finding drugs to deal with the protein defect. Work on understanding the functions of the major HSP-related proteins has been on-going for over a decade and significant progress is being made.

968 scientific research articles have been published on HSP (see http://www.ncbi.nlm.nih.gov/pubmed?term=hereditary%20spastic%20paraplegia). There are even more articles however — articles about discoveries in basic science about these proteins that never even mention the phrase “hereditary spastic paraplegia”. See, for instance, http://www.ncbi.nlm.nih.gov/pubmed/20665701. It is therefore safe to say that over 1,000 scientific research articles have been published about HSP.

The most common cause of HSP is a mutation in the SPG4/SPAST gene. Over 150 scientific research articles have been published in the past 13 years about this gene and the protein it creates. (See http://www.ncbi.nlm.nih.gov/pubmed?term=spastin%20hereditary%20spastic).

Each new article gets us closer to the answer we want. But we won’t get answers if scientists don’t have funding to do research. Scientists need funding for equipment, lab space, supplies, and employees. Without this, work on finding a cure will grind to a halt.

The reality is we need to fund the research necessary for scientists to understand the proteins involved in HSP. So far, the Spastic Paraplegia Foundation has funded approximately $3 million of research on HSP & PLS. We need to do more. So does the federal government (NIH).

Right now, work is being done to develop tests on animals with HSP to determine whether treatments are effective. (To what degree does walking improve?  Is that change real, or within normal, everyday changes that have nothing to do with a treatment?)

Human neurons (the type of cells affected by HSP) are being created from the tissue of HSP patients. These neurons will have the same defect found in the HSP patient from whom the cells came. Treatments can and will then be tested on these neurons.

Advances in cell biology on HSP-related proteins has shown that many of these proteins act together. This was hoped to be the case. It means that they are involved in the same bio-chemical pathway. This will make developing a cure easier.

I am extremely hopeful about the scientific research that has occurred to date, and the new directions that it is headed.  But just as you wouldn’t stop feeding a child until it reaches adulthood, we should not stop funding research until a cure is found.

Mark

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