Point mutation

Pathophysiology: Proteus syndrome is caused by an activating somatic mosaic mutation in AKT1, a gene which encodes the well-studied serine/threonine kinase PKB/Akt .1,2 Akt is the key mediator of the PI3K signaling pathway. In response to a growth signal (e.g. IGF, EGF) and the autophosphorylation of a receptor tyrosine kinase, PI3K is recruited and activated, generating PIP¬3 molecules at the lipid membrane. These partially activate Akt and also activate PDK1/2, which complete the Akt activation. Akt signaling effects many pathways , most notably: inhibiting BAD and other mediators of apoptosis, inhibiting GSK3β inhibition of β-catenin activity, activating MDM2 to suppress p53, and inhibiting TSC1/2 inhibition of mTOR (Figure 1). The exact…

Introduction Drosophila melanogaster can be considered model organisms for the study of genetics. Some characteristics that contribute to this status are their quick lifecycles, large amount of offspring, and the presence of only four chromosomes. Drosophila melanogaster contain bristles on the thorax, head, legs, and abdomen. These bristles are used as a sensory mechanism, allowing fruit flies to detect their surroundings as they fly and walk around their environment (Yehuda, 2011). The rate…

is Wolfram syndrome type 1 (WS-1) which results from mutations in the WFS1 gene. Wolfram syndrome type 2 (WS-2) is linked to mutations in the CISD2 gene although its protein functions and mechanisms are not well understood. The WFS1 gene codes for a protein called wolframin which is expressed in the heart, placenta, lung and brain –playing a vital role as it maintains homeostasis in the endoplasmic reticulum of the pancreatic…

Lactase persistence is the result of a gene mutation and therefore considered the mutant allele while non-persistent is the wild-type allele. However, the LCT gene itself is not mutated. The single base pair mutation (a change from a “C” to a “T”) occurs in an intron of a neighboring gene that lies 13,910 nucleotides upstream, which alters the process in which the LCT gene is turned on and off (Biology 225 Lab Manual 2016). This mutated DNA complex interacts with another protein to alter…

One in every 15,000 to 40,000 children have the disease known as achondroplasia. Achondroplasia is a genetic disease that occurs because of a mutation in the gene FGFR3 and is also the most common form of dwarfism known. The purpose of the gene FGFR3 is to make the proteins that are vital in the formation of bone tissue within the body. Because of this mutation people with achondroplasia have significantly shorter limbs than the normal person making them significantly shorter than most people…

many other parts in your body. The disease is caused by a defective gene called the CFTR gene. These genes code to produce CFTR proteins which are used to transport water and particles into or out of cells. This helps maintain a healthy balance of water and salt in your body. However in people with Cystic Fibrosis, these genes cannot properly code proteins, causing very thick mucus. This can cause blockage in the lungs and digestive system. Cystic Fibrosis severely affects many people and can…

Mutations in the gene coding for Cyclin-Dependent Kinase-Like 5 (CDKL5) present like early-seizure onset Rett 's and cause severe mental retardation. They can show features similar to Rett Syndrome even lacking the MECP2 mutation. (8) Patients with mutations in the FOXG1 gene can present with the congenital variant of Rett’s. The gene codes for a protein which may share common roles with MECP2 in brain development. (9) Diagnosis Diagnosis of Rett’s is clinical, not genetic. The main criteria,…

continues to explain that the gene HOXB7, which is a protein-coding gene, may be a greater tribute to the growth of the cancer itself. The over-expression of HOXB7 in OSE, or ovarian surface epithelial cells, is proven to upset the fibroblast growth. Kelly then goes on to explain an experiment performed to test the invasive properties of HOXB7. This particular study was conducted in 2006 by Yoriko Yamashita, an associate professor at the Graduate School of Medical Sciences, using SKOV-3, which…

Homeobox, or HOX genes are genes that determine organ and limb formation during early embryonic development. Frances R. Goodman writes in Limb Malformations and the Human HOX Genes that humans have 39 HOX genes that are organized into four clusters that have their own roles in the development of the central nervous system, axial skeleton, genitalia, and limbs. HOX genes were first discovered through mutation in fruit flies, which led to further research with HOX genes in other vertebrates. The…

D128N Mutation in GFAP gene As it has already been studied that mutation occur at various locations on the GFAP gene, it depends on the specific point where it occurs that could result in severe consequential neurodegeneration. The mutations on the GFAP gene has already contributed for about 96% of all the cases of Alexander’s. Various other side effects that could be seen with the onset of Alexzander’s disease are GFAP aggregation, astrocyte degradation, glial injury etc. This specific…