Brooke Martin Report #2 - Prader-Willi Syndrome Prader-Willi Syndrome, an imprinted disorder, is caused by the absence of paternal chromosome fifteen, at least in approximately seventy percent of all cases. In other unlikely cases, a child may have inherited two copies of chromosome fifteen from its mother, which is referred to as maternal uniparental disomy. Similarly, in vitro fertilisation may increase the risk of a mother birthing a child with an imprinted disorder. PWS can cause delayed development, low muscle strength and tone, stunted growth, difficulties feeding, obesity, infertility, and behavior problems. Infants with PWS have “insatiable appetites” which causes them to overeat and can result in obesity into adulthood, and even death,
The protein sequence of mcr-1 showed its similarity to the polymyxin-producing bacterium, Paenibacillus spp., which showed the possibility of gene transfer occurring. The mcr-1 gene enables protection from polymyxin. The mechanism that the authors proposed on how the mcr-1 gene confers colistin resistance is that mcr-1 causes a modification in lipid A, present in the lipopolysaccharides of most bacteria, which leads to lessened polymyxin affinity. The lipid A has phosphoethanolamine added to it, which in turn, inhibits the bacteria from any attachment. Q3E: What is the origin of the mcr-1 gene, and what evidence do the authors use to support this
Q.is it a chromosome abnormality? Explain. A. no it is not a chromosome abnormality but a genetic abnormality and it is more common in Asian and African American decent, The gene that causes polydactyly is GLI3, & it is one of a number Of genes that are known to be involved in the patterning of tissues & organs during development of the embryo. It does this by controlling what genes are turned on or off.t Q.is it autosomal or sex linked? Explain.
ABSTRACT NRC-04, a novel antimicrobial peptide derived from skin mucous secretions of flat fish winter flounder, shows a broad spectrum of antimicrobial activity. In order to understand the conformational change of NRC-04 in different types of membrane, our team did experiments on NRC-04 with negatively charged bacterial surface membrane mimetic micelles sodium dodecyl sulphate(SDS), zwitterionic eukaryotic middle membrane mimetic micelles dodecylphosphocholine(DPC), gram-negative bacteria outer membrane mimetic micelles Lipopolysaccharide(LPS) and bacterial inner membrane mimetic micelles 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphoglycerol(POPG). Fluorescence test shows that the C-terminus tryptophan residue of NRC-04 interacts with the hydrophobic
Abstract Dermatomyositis (DM) is an autoimmune disease that presents with a wide range of classical dermatologic findings and proximal muscle weakness. Like other autoimmune diseases, multiple trigger mechanisms have been proposed in the pathogenesis of DM. They include infections, drugs, environmental factors and malignancy. Majority of the cases are idiopathic, but in approximately 15–30% of cases of adult-onset DM, an underlying malignancy is the cause of a paraneoplastic syndrome manifested as DM. We present a case of a 31 years old female who presented to us with a heliotrope rash, gottron papules, and shawl signs associated with proximal muscle weakness.
It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person
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A major problem with clinical application of genomic information is the use of these biomarkers without fully understanding the mechanisms behind them. Without full understanding of the effects of a given SNP on protein shape, function, signalling cascade, gene regulation etc. it is impossible to predict the total effect which a given variant has on a given trait or disease (Zimmern and Kroese, 2007). SNP associations to disease can also vary depending on the population in question. A study on CFTR mutation frequency in patients clinically diagnosed with cystic fibrosis found that the mutation was present in 72.42% of Non-Hispanic Caucasians, 54.38% of Hispanic Caucasians and 38.95% of Asian Americans (Watson et al., 2004).
Silverman (2007), states, “Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21.” In the 20th century, parents of children who were born with Down syndrome were recommended to place their child in an institution. Parents who