Maple Syrup Urine Disease (MSUD) is a rare, autosomal recessive metabolic disorder in which the body is unable to process certain amino acids properly. It causes brain damage and progressive nervous system degeneration. MSUD is caused by mutations in three different genes: BCKDHA, BCKDHB and DBT (Warrell, Cox and Firth, 2012). The BCKDHA gene causes MSUD Type Ia due to the mutation in the E1α subunit, BCKDHB causes Type Ib due to the mutation in the E1ᵦ subunit, and DBT causes Type II due to…
Benzimidazole and its derivatives were synthesized according to the reported literature (Wagner EC et al., 1943). The compounds are benzimidazole ;1-(4-((1H-benzimidazol-1-yl) methylamino) phenyl) ethanone; 2-butyl-1H-benzimidazole; 2-methyl-1H-benzimidazole. The stock solutions are prepared by dissolving the compound in DMSO. Antimicrobial activity was tested by the disc-diffusion method under standard conditions using Mueller-Hinton Agar (MHA) and the antibiotics used as listed below, Table…
This essay provides a brief description of Familial Adenomatous Polyposis (FAP), a mutation on the APC gene (Cleveland Clinic, 2016, pg. 1). It discusses the beginning ages for FAP and some genetic testing options for said disease, including how accurate such tests are. The remaining portion of this paper explores my stated opinion on whether or not adolescents should be tested for late-onset genetic diseases, such as FAP. A Brief Description of Familial Adenomatous Polyposis (FAP)…
In this investigation, electrolyte content will be measured and compared to the sugar content to give a measurement of how drinks compare in terms of benefit during exercise. The independent variable will be the drink being tested, and the dependent variable will be the electrolyte and sugar content of that drink. Electrolytes are positively or negatively charged ions that are essential for survival. Positively charged electrolytes move towards a cathode, while negatively charged electrolytes…
(EPOCH (chemotherapy), 2015). This is often combined with rituximab which can be called R-EPOCH. Rituximab is a chimeric monoclonal antibody against the protein CD20 which is mostly found on the surface of immune system B cells. (Rituximab, 2015) Prognosis of Burkitt lymphoma (BL) in children, depends on the bulk of the disease at the time of diagnosis, Intensive systematic chemotherapy is the ideal choice…
Previously we were taught that our DNA is what make us unique. But what if I told you that our DNA didn’t do all the work? There is a protein in our bodies that makes our DNA coding complete and it’s called an epigenome. There are two proteins that make up one protein of a epigenome and they are histones. They are wrapped around the DNA and the Methyl group that are attached to it. Of course we are taught that our DNA makes up who we are as far as characteristics; However, epigenetics explain…
further elucidate LITAF function by allowing the identification of abnormalities during growth and development due to its gene inactivation. Dr. Robert Huber’s laboratory has already successfully conducted a gene knockout in Dictyostelium of Cln3, a protein associated with Batten disease.8 Thereby, his lab offers valuable experience and expertise in this methodology essential to the success of this…
the cells within a tissues, the morphogenesis of the cell’s 3D structures, and how the cell polarizes. In addition, the proteins check to make sure the number of chromosomes in cell division is correct. APC primarily completes its roll through protein association. It usually associates with other proteins that play a role in cell signaling and attachment. Beta-catenin proteins are especially regulated by APC.…
Temperature and pH will affect enzyme function by increasing the reaction rate because as temperature increase so is the rate of reaction and extremely high or low pH will result in the denatured by decreasing the reaction rate. The function of this experiment was to investigate the influence of the concentration of enzyme on the rate of reaction. The rate of reaction in this experiment was subjected by the amount of Guaiacol, H2O2, Extracts, and Buffer (pH5). The reaction rates with different…
Chromatin in Meiosis and Mitosis are shown differently in Interphase. In Mitosis, the chromatin is made up of DNA and proteins. The DNA coils around the protein and that structure is called a nucleosome. Each chromatid in Mitosis is made up of many strings of the DNA and proteins (nucleosomes) to form a half X. The chromosome is made up of two of the chromatids (DNA and proteins-nucleosomes) to form one X. Chromatin in Meiosis are made up of chromatids. Before meiosis I begins, each chromosome…