Friedreich Ataxia: Treatment with Genetic Approach
Journal Title: Journal of Advances in Biology & Biotechnology - Year 2017, Vol 14, Issue 4
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.
Authors and Affiliations
Martin L. Nelwan
Degradation of Curcubita pepo Seeds Oil by Aspergillus niger
Vegetable oil was extracted from Curcubita pepo seeds in n-hexane using Soxhlet extractor at 60°C. The physico-chemical parameters of the purified oil was analysed according to American Oil Chemist Society method. The ph...
Study of the Influence of Substrates on Kojic Acid Production by Estuarine Aspergillus oryzae RMS2 Isolate Under Solid State Fermentation Using Sugar Cane Bagasse as an Inert Substrate
Aims: In the present study, sugarcane bagasse was evaluated as an inert support for the production of kojic acid under solid state fermentation using two different production medium as moistening agents for the maximum p...
Histo-architectural Comparative Analysis of the Hypothalamus of Bat (Eidolon helvum) and Wistar Rat (Rattus norvegicus)
Aims: The aim of this study was to compare the histo-architectural variation (if any) on hypothalamus of both Rat (Rattus norvegicus) and Bat (Eidolon helvum). Study Design: The histological and histochemical investigati...
Evolution of Lipid Oxidation in Syrian Olive Oil under Irradiation and Storage
Aims: The current study examines variations in Syrian olive oil (SOO) after gamma irradiation treatment and during storage. Study Design: Four irradiation treatments (0, 1, 2 and 3 kGy) were distributed in a completely...
Production, Purification and Characterization of Polygalacturonase from Aspergillus niger in Solid State and Submerged Fermentation Using Banana Peels
Aims: Pectinases are extracellular enzymes produced by microorganisms which break down pectic polysaccharides of plant tissues into simpler molecules like galacturonic acids. Polygalacturonase catalyzes hydrolysis of α-1...