Klhl3 Gene Essay

In my previous experiences and conversations with various individuals, the overall interpretation or misconception of bipolar disease is that the person is “”crazy. What do people really consider or mean by the term crazy? As displayed by Team B’s behavior presentation, Bipolar disorder

1. A young man of 24 years gets a telegram from an old college friend that he is coming back to see everyone in their small midwestern town.

There are several mutations in the CFTR gene, and different mutations cause different defects in the CFTR protein. Sometimes they cause a milder or more severe disease. ΔF508-CFTR, which occurs in >90% of patients in the U.S., creates a protein that does not fold normally and is degraded by the cell.

The best one was the twitcher mouse model which occurring human krabbe disease that is caused by a mutation in galactocerebrosidase gene. Mutation analysis of the human GALC gene was facilitated by the cloning and sequencing of GALC cDNA (5). Mutation analysis of the human GALC gene was facilitated by the cloning and sequencing of GALC cDNA . This allowed DNA obtained from Krabbe affected people to be sequenced and analysed against the normal GALC gene. To date there have been over forty mutations identified that cause the galactosylceramidase deficiency of Krabbe disease .The most common mutation in the European population is a 30kb deletion which is associated with a C to T transversion at cDNA position 502. The large 30kb deletion affects the production of galactosylceramidase since it removes a significant portion of the enzyme coding region. This results in the cancellation of 5 amino acids and the insertion of 2 amino acids which impacts on the quaternary structure of the

The Von Hippel-Lindau (VHL) gene was first discovered as a tumor suppressor gene in 1993 by Latif, et al. (1). The gene was identified in an attempt to determine the driver of tumorigenesis in Von Hippel-Lindau Disease. VHL disease is an autosomal dominant hereditary cancer syndrome that is characterized by tumor and cyst formation throughout the body, with those infected especially predisposed to hemangioblastomas of the central nervous system, eyes, pancreas, and kidney. Latif, et al. were able to match the gene region to chromosome 3p.25-26 by positional cloning and created a map of the region using pulsed-field gel electrophoresis in order to isolate the prospective genes. The DNA of 221 VHL patients was then probed using specified plasmids to determine that there were 28 rearrangements present, with three large non-overlapping deletions detected in the hypothesized VHL gene segment. This sequence was conserved across different species, with implications of its necessity for normal cellular function, pointing to its role as a tumor suppressor. Since part of the sequence of the protein product (pVHL) also matched (48%) to that of a surface membrane protein sequence in Trypanosoma brucei, pVHL is thought to have some role in signal transduction or cell adhesion as well.

The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.

This rare disease has an incidence of 1 in 36,000 live births [1] worldwide and a very high penetrance rate of more than 90% of mutation carriers by the age of 65 years. Causative gene VHL (NCBI Genebank gene ID: 608537), was located at Chr 3p25.3 and was found by positional cloning techniques in

One major disease caused by SNPs is sickle cell disease. In sickle cell, there is a single amino acid change where glutamic acid becomes valine (Zou, et al., 2011). This single amino acid switch gets translated into a different nucleotide causing severe alteration of how the resulting proteins are folded. It results in the characteristic “sickle” shape of the red blood cells, and causes hemoglobin to carry less oxygen, which leads to anemia (Zou, et al., 2011).

Hydroxylase (PAH) gene mutated leading the non function of this enzyme in this disease. In

66% of the patients with VWM have mutations in eIF2B5; it is the largest subunit, yet it additionally contains an excessively high number of mutations. As indicated by van der Knaap and colleagues database of 102 VWM families, mutations were found on eIF2B5 (67%), followed by eIF2B2 (16%), eIF2B4 (10%), eIF2B3 (5%), eIF2B1 (2%) (6).

This mutation causes the red blood concave into a crescent mood shape which eventually leads to the interference of transport for all blood cells moving throughout the body and with the lack of haemoglobin, the red blood cells become weak and

A study done by Jian et al looked at what role the KAL1 gene plays played in other physiological and pathological processes besides migration of GnRH neurons in embryogenesis. The study investigators screened colon, lung, and ovarian cancer for KAL1 gene expression. They observed a decrease in KAL1 expression was decreased in these tissues compared to uninvolved tissues. However, as the cancer progressed to stage II and then on to stage III and IV the expression of KAL1 increased at each stage. The study then found a direct correlation between KAL expression and TGFβ in colon cancer. The study also found that TGFβ induces KAL1 gene expression and secretion of the Anosmin-1 protein. Anosmin-1 protected cancer cells from apoptosis activated

At the site of the Hb molecule its adenosine base would be replaced by a thymine base; thus, instead of synthesizing hemoglobin molecule with the codon GAG at its 17th nucleotide it would exist as GTG, both of which code for different amino acids (glutamic acid and valine respectively). The Transversion from the polar amino acid glutamic acid in normal Hb molecules to that of the non-polar valine will cause drastic changes to the properties of the Hb molecule. Where in it would lose its solubility, crystalizing in the capillaries of the tissues, as well as becoming hydrophobic as direct effect of glutamic acid substitution forcing the RBC to assume the shape sickle crescent shape. In addition, the mutated Hb molecule has had its intermolecular interaction with other Hb molecules altered, drastically changing its susceptibility to interact with other inorganic molecules in the blood, in such a way that it partially impairs the carrier’s respiratory system, and eventually causes an irreversible damage to the patient[ ].

Two types of protein have been repeatedly shown to directly interact with the cytoplasmic domain of PODXL, the NHERF isoforms 1 and 2 (solute carrier family 9 (Na+/H+ exchanger) member 3 regulator -1 and -2) and ezrin, a member of the ERM family (see Figure 4 (Li et al., 2002; Orlando et al., 2001; Schmieder et al., 2004; Tan et al., 2006)). The DTHL signaling motif in the cytoplasmic tail of PODXL is required for its interaction with the NHERF1/2 proteins via their PDZ domains (Li et al., 2002; Tan et al., 2006). These two adaptor proteins form complexes with many different proteins and are implicated in protein trafficking, ion transport and signaling (Donowitz et al., 2005; Weinman,

The ongoing search for new anticancer and antiviral treatments has led to many new discoveries. Ubiquitin-specific protease 7 (USP7) is an example of a protein involved in different cancer development pathways and is also a target of many viruses belonging to the Herpesviridae family. While ubiquitin proteins play an essential role in signaling cascades and protein degradation, deubiquinating enzymes like USP7 interfere in these processes by cleaving the bond between the substrate and ubiquitin. USP7 has a variety of targets including p53 (a tumor suppressing gene), different transcription factors, and ICP0 - a protein that forms an integral part of the herpes simplex virus-1. The aim of this study is to investigate the