Fermt1 Case Study

Using these three articles (or more), you should tell the story of the discovery and developmental function (including the relevant signaling pathway) -

There are three main types of EB. Each is caused by a different mutation. The most common type of EB is Epidermolysis Bullosa simplex (EBS). This variation is unlike the other two in the fact that it is autosomal dominant. The gene that is mutated is called keratin 14 or KRT14 for short. This gene in particular codes for keratins, a type of protein that forms skin, hair and nails. There are over 60 mutations that have been found in people living with EBS from this gene alone. Keratin 14 is located on chromosome 17.

Wischusen, William, Jolissaint, Ann, Reiland, Jane, and Pomarico, Steven. 2012. Biology 1208/1209: Biological Laboratories for Science Majors. Hayden McNeil, Plymouth,

A. Dominant pathogenic mutations display their traits despite another copy remains present. The lethal form of keratitis-ichthyosis-deafness (KID) syndrome is caused by the reversion of the GJB2 nonsense mutation p.Tyr136X that would otherwise have confined the effect of another dominant lethal mutation, p.Gly45Glu, in the same allele

I was born with a birth defect known as Ectodermal dysplasia. Ectodermal dysplasia has over 150 classified types that all have their own effects

Classical, Hypermobility, Vascular and Arthrochalasia forms of EDS are transmitted as an autosomal dominant trait. Kyphoscoliosis and Dermatosparaxis type of EDS are transmitted as an autosomal recessive trait. Classical EDS results from a faulty collagen V genes. A decrease in collagen synthesis generally results in defective tissue mechanical properties and is mainly characterized by skin hyper extensibility (Bancelin, 2015). The Vascular Type of EDS is caused by structural defects in the proa1 (III) chain of collagen type III. Kyphoscoliosis Type EDS is the result of a deficiency of a collagen-modifying enzyme (lysylhydroxylase). The Arthrochalasia Type of EDS results from a mutation which leads to the deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. Dermatosparaxis Type EDS is caused by a deficiency of procollagen I N-terminal peptidase (ENDF,

Childhood is a time for frolicking and having fun. A time to explore, to discover, to interact with other children, a time to be carefree, but imagine a child who will never know what is like to run and jump, to play games with others and not worry about anything, because even the slightest physical contact will damage his or her skin. Many children are born with many different diseases. One of the rarest and difficult diseases is Epidermolysis Bullosa, a rare skin disease. Even though this is a rare disease, there is a tremendous amount of knowledge to it and many researchers looking for a cure. Epidermolysis is in a group of inherited diseases that are characterized by blistering lesions on the skin’s surface and in the mucous membranes.

Darier's disease (keratosis follicularis) is an autosomal dominantly inherited genodermatosis characterized by greasy hyperkeratotic papules in seborrheic regions, nail abnormalities, and mucous membrane changes. Worldwide prevalence is estimated as between 1: 30,000 and 1: 100,000. Darier's disease is not apparent at birth. Usually, it starts either in the first or second decade of life. The sites of predilection are the seborrheic areas of the trunk and face, particularly the scalp margins, forehead, ears and nasolabial furrows, and scalp. The flexures, notably the anogenital region, the groins and the axillae, are often involved. [1]

BDNF is a member of of the neurotrophin family of growth factors. In vitro studies showed that BDNF participate in regulation of neuronal morphology and synaptogenesis and is involved in late LTP. The effects of BDNF are mediated through TrkB receptors.

Cellular respiration and fermentation may be difficult to understand in terms of their function, but difficult to explain the process of how energy is created. For this reason, a lab was created titled Unit 9: Cellular Respiration and Fermentation. There were three experiments. The first experiment tested a person's forearm muscle endurance, while the second experiment tested yeast’s cellular respiration and fermentation capabilities. The third experiment tested the effects of cellular respiration and fermentation to the surrounding environment. If a person repeatedly contracts their forearm muscles, then the muscles will become fatigued. However, if yeast is awoken to perform cellular respiration, then overtime four observations will

The first line of defense is formed by the stratum corneum, the uppermost layer of the epidermis. In the stratum corneum, filaggrin (FLG), a late epidermal differentiation protein, plays a pivotal role in the barrier function. It has been reported that loss of function variant of FLG gene leads to impaired skin barrier function and strong predisposing factor for atopic dermatitis (Palmer et al., 2006). FLG mutations may also increase the susceptibility to haptens, because mutations within the FLG gene were reported to represent a predisposition to contact allergy in both mice (Moniaga et al., 2010) and humans (de Jongh et al., 2008; Novak et al., 2008). On the other hand, other reports failed to find a clear association between contact allergy risk and FLG mutations (Lerbaek et al., 2007; Schnuch et al., 2010); therefore, further studies are needed to conclude the association between FLG mutation and contact dermatitis. Tight junctions are a second barrier to block antigen penetration into the skin. These junctions are composed of several proteins such as claudins and occludins in the stratum granulosum. Protein antigens are blocked from penetrating the body by this barrier. It has recently been reported that activated Langerhans cells (LCs) can elongate their dendrites above this barrier to take up protein antigens (Kubo et al., 2009), and the deficiency of LCs leads to reduced clinical

Peripheral axons from auditory spiral ganglion neurons project to the organ of Corti and synapse with both inner and outer hair cells prior to the onset of hearing. The developmental processes that determine axon outgrowth are largely unknown, though it is thought that a combination of axon guidance molecules and neurotrophic factors determine the fate of the projections. Here, we use immunofluorescence to show that the P2X3 receptor is expressed in both spiral ganglion neurons and hair cells during cochlear development. Furthermore, we demonstrate that P2X3 expression is nearly ubiquitous among spiral ganglion neurons at E16.5. These results support previous work on the spatial expression of P2X3 during development and serve as a foundation for future examination of the developmental function of P2X3.

The essential genes for normal tooth development which provide instructions for making proteins in the enamel are the AMELX, ENAM, and MMPO20 genes (Office of Rare Diseases Research). Proteins such as amelogenin, ameloblastin, and enamelin are critical for normal formation of the enamel (“Amelogenesis Imperfecta”). Enamel is the protective layer of tissue which protects the tooth from painful temperatures end chemicals (Office of Rare Diseases Research). “Enamel is 97% mineral by weight with approximately 1% protein and 2% water” (Wright). In Amelogenesis Imperfecta, the AMELX, ENAM, and MMP20 genes will be mutated and will alter the structure of the proteins or prevent any proteins from being made at all (“Amelogenesis Imperfecta”). This condition presents problems of socializing with others and discomfort, but they may be managed early by vigorous

Epidermolysis Bullosa, otherwise called butterfly ailment, is a hereditary skin condition. The skin of patients with this malady is as delicate as the wings of a butterfly. It rankles effectively because of minor harm or grinding, for example, rubbing or scratching. Besides, the patients create endless injuries that are not recuperating and their fingers and toes wire, for instance. The condition is created by a change of the quality COL7A1, which contains the outline for the protein collagen VII. This protein ties the epidermis and the dermis, two layers of the skin, together. In RDEB understanding, collagen VII is totally truant and, in this way, the skin gets to be delicate.

The objective of this study is to show the process of fermentation of yeast and the cellular respiration rate that is found in the mitochondria. The first part of the experiment tested fermentation of yeast through the production of CO2 under certain circumstances. Four different food sources were used: glucose, sucrose, starch, and H2O. The temperature varied from 37oC to 4oC and measured on a 5 minute interval. We predicted that the glucose on the highest temperature would produce the most CO2 bubbles. In the alcohol fermentation process glucose is initially used, we predicted that the increase in glucose would produce the most CO2.