Background Twist1 (class A basic helix-loop-helix protein 38) is a transcription factor, that promotes the stability of upstream regulation through phosphorylation and ubiquitination, during early development.5 The various functional properties of Twist1 were first discovered in Saethre-Chotzen syndrome. This syndrome results from a mutation that causes Twist1 to lose its function, leading to coronal synostosis (cranium disfigurements) and impediments in mental capacity.6 Similarly, cancerous lymph node associations cause promoter hypermethylations, which overexpress Twist1.2 Through that overexpression, the WR domain (N-terminus of Twist1) binds to the transcription factor complex responsible for post translational modifications, called RELA (NF-kB subunit).2 Then, an activated RELA promotes the epithelial-to-mesenchymal transition (EMT) in a downstream pathway.1 Considering EMT regulates cancer cell metastasis, overexpression results in upregulation of EMT effectors N-cadherin and vimentin, with the downregulation of EMT effector E-cadherin (Fig 2).7 Consequently, the alteration in regulation patterns of the EMT effectors induces cellular intrusion and metastasis (Fig. 2). Figure 2: Schematic of Twist1 over activation cascade. The WR domain (N-terminus of Twist1) binds to RELA (NF-kB subunit) inducing the upregulation of …show more content…
As Vallet-Regi's Laboratory has found, MSN's disassemble and release siRNA in response to pH changes.13 This can make targeting a specific cellular region challenging since the MSN may degrade in an acidic area before reaching a basic region. To modify when the siRNA releases, Vallet-Regi's Laboratory has found SIP's (self immolative polymers) with polyurethane backbones and a tert-butyloxycarbonyl protecting group, are an effective method of protecting MSN's until they reach their target acidic pH (Fig.
Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency. According to Brunner, it is a rare genetic disorder with a mutation in the MAOA gene (monoamine oxidase A gene). It is characterized by lower than average IQ (typically about 85), is a problematic impulsive behavior (such as arson, hypersexuality and violence), is also a sleep disorders and mood swings. Brunner syndrome was first discover by Hens G. Brunner; his findings has been used to argue genetics, and the behavior can cause criminal activity. Evidence supporting the genetic defense stems from both Brunner’s findings and a series of studies on mice have proven correlation
Receptor tyrosine kinase is a cell membrane receptor system that can trigger multiple cellular responses simultaneously. It requires two receptor tyrosine kinase proteins, which are initially individual polypeptides that each have a signal-binding site, an α helix spanning the cell membrane, and a tail of multiple tyrosines. When signal molecules bind to both proteins they attach through a process called dimerization, forming a dimer. This process activates, or phosphorylates, the ends of the tyrosines, also known as tyrosine-kinase regions. Once the dimer is activated, multiple inactive relay proteins are able to bind to the tyrosine-kinase regions. Each of these proteins trigger a cellul...
The MECP2 gene makes a protein, also called MECP2, believed to play a pivotal role in silencing, turning off or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally(Rett Syndrome - NORD). Rett syndrome is a genetic disorder of developmental failure of brain maturation. This is thought to occur when subsets of neurons and their connections are disrupted during a dynamic phase of brain development. This deviation occurs at the end of pregnancy or in the first few months of life during the critical phases of synapse development. How mutations in MeCP2 lead to Retts is not well understood but is the focus of intense research.
Nothing good comes from the disease Marfan syndrome. It is awful in many ways but can be dealt with. Here is an introduction to Marfan syndrome.
...s project is discovery of new high-penetrance genes as well as finding new low-penetrance gene modifiers of major genes in the human body.
Eisenmenger Syndrome (ES) is a heart defect that was first giving the name in 1897 (Fukushima, 2015). This syndrome happens when the birth defect is not treated before the lungs’ arteries become damaged. Eisenmenger Syndrome is named after Victor Eisenmenger a man who had a patient who showed symptoms such as, breathing complications and skin that was turning a bluish color. The autopsy of this patient lead him to discover a ventricular septal defect [VSD] (El-Chami, 2014), that causes a hole in the wall on the right and left ventricular. This is the defect that begins when signaling for pulmonary artery hypertension, which progresses into more advanced stages of ES. This birth defect eventually causes patients to have various
Specifically “TP53, p16INK4A, and SMAD4. The p53 nuclear protein activates transcription of a cyclin kinase inhibitor p21WAF1/CIP1. Following genomic stress, inappropriate growth factor stimulation or expression of oncogenic ras increased expression of p53, and thus p21WAF1/CIP1 resulted in inactivation of specific CDK/cyclin complexes” (MedScape). If this transformed cell can escape internal and external fail-safe mechanisms, receive nutrients, and activate its proliferative program, it can form a mass of cancerous cells. Tumor growth can cause the loss of pancreatic functions. Another characteristic of pancreatic cancer is metastasis happens early in tumor growth, which is most likely responsible for pancreatic cancer’s aggressive
Schulman, Joshua M., and David E. Fisher. "Abstract." National Center for Biotechnology Information. U.S. National Library of Medicine, 28 Aug. 0005. Web. 24 Apr. 2014.
Cancer starts when certain cells in the body are mutated or changed and begin to divide. Cancerous cells grow differently than normal cells, instead of progressing through the normal cell lifecycle, cancer cells continue to grow and create more abnormal cells. A specific trait of cancer cells is that they have the ability to infiltrate and grow into surrounding tissues, developing out of control and causing serious damage to the host (Vincent, 2008). Cells become cance...
Cancer is beyond mutations. By definition, epigenetics is the change in gene translation that is caused by alterations not directly due to genetic mutations in the DNA sequence. The 2 main mechanisms are DNA methylation and covalent modification of histones. By methylation, certain molecular tags (methyl groups) bind to a specific sequence of a gene, that results in its disability hence incapable of being translated into its appropriate protein product. These changes affect the cell’s functions leaving its DNA unchanged. Epi is derived from Latin meaning above; hence an epigenetic configuration overlies our genetic predispositions.
... starts relaxing the supercoils and altering of DNA and interacts with DNA helicase SGS1 and plays a role in DNA recombination, also cellular aging and maintenance of genome stability. Alternate splicing results in multiple transcript variants. Additional spliced variants of the gene have been described, but their complete length is unknown.
Peutz-Jeghers Syndrome (PJS) is an autosomal-dominant inheritance condition that usually runs in families. Another name for this disorder is hereditary intestinal polyposis syndrome. PJS is a rare disorder and occurs in 1 in 160,000 to 1 in 280,000 persons. Peutz- Jeghers Syndrome is “caused by a change (mutation) in a gene that increases the risk for developing colon and other cancers.
Healthy cells grow and divide in a way to keep your body functioning properly. But when a cell is damaged and becomes cancerous, cells continue to divide, even when new cells aren't...
Truth Wins OUt. “Dr. Dean Hamer (Molecular Biologist) .” truthwinsout.org. N.p., 31 Jan. 2008. Web. 26 Mar. 2012. .
Scoliosis is a disease that attacks the muscles and ligaments of the spinal column, causing a sideways twisting and rotation of the spine, ribs, and pelvis. Its is a C-shaped or S-shaped curvature of the spine. An S-shaped curve is created when a secondary curve counterbalances primary abnormal curve. It severely impairs the bodies neurological, hormonal, and nutritional systems.