Friedreich Ataxia: Treatment with Genetic Approach
Martin L. Nelwan *
Department of Animal Science – Other, Nelwan Institution for Human Resource Development, Jl. A. Yani No. 24, Palu, Sulawesi Tengah, Indonesia
*Author to whom correspondence should be addressed.
Abstract
Friedreich ataxia (FA) is a disorder in the nervous system inherited to the Mendel’s law. Mutations in the FXN gene trigger the FA disorder. The FXN gene occupies chromosome 9q21.11 in the chromosome map. Four classes of alleles are in the mutated FXN gene. These include normal alleles, changeable normal alleles, complete penetrance alleles, and borderline alleles. Adequate treatments are unavailable for this disorder at present. However, to treat FA, genetic approach can be used. The approach may comprise genetic counseling and use of advanced therapy, gene therapy for instance. In genetic counseling, if both parents are carriers, a child has a 50% carrier and a 25% FA. To detect people with carrier, amniocentesis can be used for instance. To study FA for human needs, DNA banking is needed as used in gene therapy. Gene therapy is a method to correct damaged cells of patients. This technique has attracted attention of researchers to perform research for treatment of various diseases, particularly FA.
Keywords: Ataxia, Friedreich ataxia, FA, FXN