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A Call For Action

Finding The Cause:
Where Are We in 2003? A Call For Action.

Paul Sponseller MD, Baltimore Chairman,
Etiology Committee, Scoliosis Research Society

links: how you can help - letter template - help fund the cause


It is a mystery why the spine of an otherwise healthy person would develop a strange twist- one that may keep worsening at an alarming pace. This has interested physicians and biologists for several generations. Many have spent their careers in research of the etiology - the Greek word meaning "study of cause." They have done biopsies of muscle, bone and disc; animal studies were another tool. Yet the basic truth is still this: we do not know the cause of most human spinal deformities.

We would certainly like to have a better treatment for young children than the brace; a better corrective method than surgery. Understanding the cause is the first step in finding a cure. The National Scoliosis Foundation has been instrumental in efforts to find it. The funding and encouragement provided by the Foundation has been invaluable. Current work on etiology involves tracking down promising leads and using new genetic techniques to take a fresh look.

Promising leads involve hormones and platelets. It has been shown that removing the pineal gland in the brain of some animals produces scoliosis. Understanding the hormones that this gland produces may shed an important light on the cause of scoliosis. Melatonin is one such product; there may be others. Another clue to the problem may come from platelets. These are small particles found in blood which help to produce clotting. They have a contracting protein called calmodulin which functions like a muscle and helps pull clots together. This protein shows promise of predicting which scoliosis may get worse and which may not. Like other clues, it may lead us closer to the cause of the curves. The problem with animal models and other clues is that they may not necessarily tell what is really happening in people. Some experts feel that the cause of scoliosis may rest with genes which are involved with regulating body order and symmetry throughout life.

Genetic research has the promise of finding the basic cause of scoliosis. It has helped show the causes of many conditions, such as Muscular dystrophy and various tumors. In scoliosis, researchers first started by looking for abnormalities in several “candidate genes”: genes which might logically be thought to cause scoliosis. These involved several dozen basic building blocks of bone, cartilage, and ligament. Blood samples were collected from thousands of persons with scoliosis and their families. From these, DNA was saved and analyzed. (Figure 1) These did not show any abnormalities.

The next step involved screening the entire genome- the entire length of the human DNA. Researchers were looking for areas which were commonly linked to scoliosis- in other words, which were seen more commonly in persons with scoliosis than those without. (Figure 2) This required several thousand blood samples, powerful lab tools and a good command of statistics. Many members of the National Scoliosis Foundation generously participated in this collection. An example of a family with an extensive amount of scoliosis is shown here. (Figure 3) This work is still going on in labs such as Nancy Miller’s in Baltimore, Carol Wise’s in Dallas, and Jose Morcuende’s in Iowa City. Separate work on congenital scoliosis is being carried out in Philadelphia and Toronto. Interest has risen since linkage to at least four different chromosomes has been found. In some families, abnormalities in the X-chromosome were found. This may explain some of the gender differences seen in scoliosis.

Much more work needs to be done. These findings need to be confirmed, and the genes involved need to be investigated. What we know now is some regions of chromosomes which may hold the genes. This is like knowing the state and city of a friend but not the street and house number. When we find the gene(s), we need to find what they do. Is there more than one gene for scoliosis? How does they cause scoliosis? How can we (safely) intervene? It is also likely that other genes in each person may interact with the gene causing scoliosis to influence the severity of the curve, and explain why some people develop severe curves and others do not. The road ahead is farther than that already traveled. Understanding of the etiology of congenital scoliosis, or misshapen vertebrae, has advanced through animal models which have been discovered to have defects in certain proteins (the notch pathway). These proteins help to “sculpt” the spine into shape in the early stages of the embryo.

What does the future hold? Until the etiology is found, we can only guess how medicine might intervene with new therapies. It seems quite likely that we will be able to predict which patients’ scoliosis will get worse and which will not. Thus we may be able to save some people from the need to wear a brace unnecessarily. We may be also be able to predict whose scoliosis will rapidly worsen and when, and therefore use more targeted bracing. We may even be able to give medication which slows the worsening and eliminates the need for a brace altogether. A real dream would be a way to make scoliosis better nonsurgically- to reverse the abnormal growth. This may be a long way off. Although there is no such strategy now, a better understanding of the etiology of scoliosis may awaken physicians to such possibilities. It is also likely that the understanding of scoliosis will give us better knowledge of other aspects of the human skeleton. Research into the etiology of scoliosis is expensive. The money provided by the National Scoliosis Foundation and others is a good start but is only a “seed” to get things going.

It will require millions of dollars to reach the stage where findings can be put to use helping people. Support by the National Institutes of Health (NIH) will be crucial to this process. So far there has been virtually NO NIH funding of research into the etiology of spinal deformity. The NIH realizes that it can’t fund everything, so it tries to put its money behind projects which will do the greatest good. Cancer and heart disease are obvious, worthy targets. Scoliosis is more of a silent disease. It is rarely fatal. People with scoliosis tend to deal with it by themselves, and its impact is not widely felt outside the family. Yet it affects 2-10 people out of every thousand, to some degree. Only by making known the burden of this disease will funding be made available for research into scoliosis by the NIH. Scientists have salaries to pay, equipment to buy… money is needed!!! People with scoliosis are best able to make this known. With the leadership of the National Scoliosis Foundation, people with scoliosis can make their wishes for etiology research. For this reason, the Foundation is launching a grass-roots campaign to highlight the need for funding of etiology research. The voice of every person needs to be heard.

Click here to find out how you can make your voice heard, and change the course of scoliosis history.

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