The Genetics of Scoliosis
Despite a tremendous amount of scientific research, the causes of some types of scoliosis remain largely unknown. Adolescent idiopathic scoliosis may be a disease that is inherited as a genetic trait, much like some other diseases, such as sickle cell anemia. The gene that causes scoliosis remains undiscovered, but scientists are trying to find this gene using new techniques for analyzing genetic inheritance. Defining the role of genetics in scoliosis is currently the focus of intense research at a number of academic centers throughout the world.
There is strong evidence that an abnormal gene is partially responsible for some forms of scoliosis. It is possible that genetic factors may influence important aspects of scoliosis such as the pattern of curvature (left versus right curves), the shape of the curve, and the risk of progression. The tendency for scoliosis to appear in people who are closely related, such as mothers and their daughters, identical twins, and first degree relatives, suggests that scoliosis can be inherited. For example, several studies have shown that the incidence of scoliosis in first degree relatives (such as parents, siblings, and children) ranges from 7-11%. In contrast, the incidence in second-degree relatives drops to less than 4%. The exact pattern of inheritance remains unknown, and the gene that is responsible for scoliosis has yet to be identified.
One research project that is attempting to find the gene responsible for scoliosis is currently being conducted at Primary Children's Medical Center and the University of Utah in Salt Lake City. This research is being conducted in collaboration with EmerGen, a gene discovery company that is also based in Salt Lake City. We are planning to analyze the patterns of inheritance of scoliosis in families where multiple family members are affected by scoliosis. This type of research has been successful in identifying the causes of other diseases, such as arthrogryposis, a condition that causes stiff joints and limb abnormalities in children. If you are part of a family in which many of your family members have scoliosis and you are interested in participating in this study, please let us know.
Scoliosis and Genetics FAQs
How can I tell if my family has a genetic tendency towards scoliosis?Ask other members of your family. Although about 2% of the general population may have mild scoliosis, a much smaller number have scoliosis significant enough to require treatment with a brace or surgery. Significant scoliosis is often present in 7-10 % of first degree relatives (mothers, daughters, children). If you are interested in this, try a survey of all of your family members at a family reunion or holiday event.
Is there a test for the scoliosis gene?No. The gene or genes for scoliosis has not been identified. When these genes are discovered, it may be possible to develop a test for it.
If I have scoliosis, what are the chances that my children will have scoliosis?Most studies have shown a mother with significant scoliosis runs the risk of having a daughter develop scoliosis approximately 5-10 % of the time. If you have scoliosis and have teenage girls, then it would be a good idea to look at their back during their adolescent growth spurt. This is a time where girls are very modest and it can be hard to tell if they are developing a curve unless you look very closely. The iscoliosis.com self-assessment tool can be very helpful if you are unsure.
What is "gene therapy"? Does gene therapy exist for scoliosis?The concept of gene therapy is that an abnormal gene can be repaired or replaced in the genetic code and then the gene will then function normally. At the present time, the gene or genes for scoliosis have not been found. The technology for genetic engineering is rapidly advancing and the medical community has great hopes for the possibility of the genetic treatment of diseases. Although scientists have the ability to clone sheep in the laboratory, the application of gene therapy for humans is still in the future. Currently, there are no possibilities for gene therapy as a treatment for scoliosis.
Are there any studies being conducted in your region about the genetics of scoliosis? If so, how could I participate?Yes. We are currently conducting a study of the genetics of scoliosis at Primary Children's Medical Center and the University of Utah. This is a collaborative effort with EmerGen, a gene discovery company in Salt Lake City, Utah. If you would like further information about the study, please call 801-883-0103 ext. 702 during working hours and ask to speak to the Scoliosis Study Coordinator.
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