Symptoms And Treatment Of Sandhoff Disease - 1401 Words

Sandhoff Disease is a rare inherited autosomal recessive (one copy of the abnormal gene from each parent must be passed to the fetus in order for the disorder to be present, in total two abnormal genes are needed for the syndrome to be present) lipids (fats), storage disorder that progressively destroys the nerve cells in the brain and spinal cord (Sandhoff Disease, WEB). Genetically, in humans the defected gene is HEXB, it doesn’t allow the routine production of ÃŽ ²-hexosaminidase A and or B. In infants, the physical effects start to take place between 3-6 months their development slows and their muscles weaken (Sandhoff Disease, WEB). Infants will lose their motor skills (turning, sitting, and crawling), hearing, vision, an exaggerated†¦show more content†¦A fragment of DNA was then amplified using Polymerase Chain Reaction (PCR) with a forward primer and a reverse primer. PCR is a technique used to make as many copies as possible of a specific section of the DNA e xtracted. The five necessities for PCR to be successful is the DNA template that one wants to copy, a buffer, nucleotides (ATCG), polymerase, and primers. PCR occurs in 3 stages: (1) Denaturing, (2) Annealing, and (3) Extending. During the Denaturing stage, the stand containing the DNA template (in this case the fetus’) is heated to separate the double stranded DNA. Next during the Annealing stage, the stand is then cooled to allow the primers to attach to a specific location on the single stranded DNA template (primers are usually 20 to 30 bases long). Lastly during the Extending stage, the stand’s temperature is increased to permit the making of new DNA by a specific DNA polymerase. The result is multiple new strands of DNA that has been successfully copied (What is PCR, WEB), followed by electrophoresis in 1% agarose gel. Electrophoresis is a technique commonly used to separate DNA, RNA, and proteins according to their sizes. The result was then purified with a P CR purification kit (removing any remaining DNTPs, or nucleotides that could result in contamination). The products wereShow MoreRelatedEssay about Sandhoff’s Disease Tay Sachs604 Words   |  3 PagesTay-Sachs in the general population is 1/600† (OMIM). Sandhoff Disease is a rare genetic disorder, and it is a severe form of Tay-Sachs that progressively destroys cells in the brain and spinal cord. Since its discovery and analysis of inheritance, there have been advancements of its diagnosis, treatment, research, and its support resources for affected families. Those affected individuals lose motor skills and function of other body parts. As the disease progresses they experience seizures, vision/hearingRead MoreGene Therapy Of Tay Sachs Using A Modified Adenovirus3724 Words   |  15 PagesGene Therapy of Tay-Sachs Using a Modified Adenovirus Akash J. Patel Abstract: Tay Sach’s disease results in an accumulation of lipids in the brain’s nerve cells. The underlying cause of Tay-Sachs disease is a mutation in a gene that codes for a lytic enzyme known as Hexosaminidase A (Hex A). Tay-Sachs as well as other lipid storage diseases are incurable, but we believe that gene therapy has the potential for widespread correction of the lipid storage defect in humans by means of the cross-correction