Oculocutaneous albinism is the lack of color in an individual skin hair and eyes. This is a condition that exists from birth. This a The Importance of Ion Channels: An Analysis of the Long QT Syndrome
Inheritance method
Long QT Syndrome (LQTS) is an uncommon congenital heart condition in which patients affected by this syndrome are at high risks for cardiac arrest and sudden cardiac death due to mutations in cardiac ion channels (Crotti et al., 2008). There are two particular variants to the Long QT Syndrome; one is called the Jervell and Lange-Nielsen Syndrome (J-LN), which is associated with deafness, and the other has been named the Romano-Ward Syndrome (R-W), in which there is no connection with deafness (Crotti et al., 2008). The Romano-Ward Syndrome is known to be the more common type of LQTS and is autosomal dominant (Russell et al., 1996), whereas the Jervell and Lange-Nielsen Syndrome is less common and is autosomal recessive (Crotti et al., 2008).
Gene(s) responsible or implicated in the disorder
The research community has divided the Long QT Syndrome by types, depending upon the different mutations in four of the cardiac ion- channel genes, KVLQT1, HERG, SCN5A, and KCNE1 (Zareba et al., 1998). Mutations within these voltage-gated ion channels ultimately disrupt the normal nerve impulses that take place within myocardial cells. Sodium and potassium channels play key roles during action potentials as it is through these channels that their respective ions are able to enter and leave the cell in order to generate electrical excitation or inhibition throughout. Such channels are composed of subunits of proteins, and damage within even one subunit can alter the overall function of the action potential, which will alte...
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...ed. Philadelphia, Pa: Saunders Elsevier; 2007: 52.
Priori, S., Napolitano, C., Schwartz, P., (1999). Low penetrance in the long-qt syndrome. Circulation 99, 529-533.
Russell, M., Dick, M., Collins, F., Brody, L,. (1996). KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Human Molecular Genetics 5, 1319-1324.
Westenskow, P., Splawski, I., Timothy, K., Keating, M., Sanguinetti, M., (2004). Compound mutations: a common cause of severe long-QT syndrome. Circulation 109, 1834-1841.
Zareba, W., Moss, A., Schwartz, P., Vincent, M., Robinson, J., Priori, S., Benhorin, J., Locati, E., Towbin, J., Keating, M., Lehmann, M., Hall, J., Andrews, M., Napolitano, C., Timothy, K., Zhang, L., Medina, A., MacCluer, J., (1998). Influence of the genotype on the clinical course of the long-QT syndrome. The New England Journal of Medicine 339, 960-965.
This condition is said to start within the sacromeric proteins, as past studies has called this disorder ‘the disease of the sacromere’ 6. The muscle around the left ventricle is so strong that is does not relax enough after contraction to regenerate blood back into the heart 5. Hypertrophic cardiomyopathy was discovered in approximately 50% of young individuals who died suddenly 5. A recent study observed the genes associated with hypertrophic cardiomyopathy. Within 20 sacromere and myofilament related genes, there were 1400 mutations noted in HCM 6. The mutations within the sacromere prevent normal shortening that causes the muscle to contract stronger, reducing relaxation. However, all the mutated genes are not proven to cause hypertrophy. The MYH7 gene seems to be the most frequent as 25-35% of patients with mild or severe HCM had this gene present 6. Despit...
Altherr, M.R., Bengtsson, U., Elder, F. F. B., Ledbetter, D. H., Wasmuth, J. J., McDonald, M.E., Gusella, J. F., Greenberg, F. Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4. Am. J. Hum. Genet. 49: 1235-1242, 1991. [PubMed: 1746553]
Sarkar, P. K., & Shinton, R. A. (2001). Hutchinson-guilford progeria syndrome. Postgraduate Medical Journal, 77(907), 312-7. Retrieved from http://search.proquest.com/docview/206274391?accountid=1599
Retinitis pigmentosa can be caused in a person in numerous ways. It normally runs in families, however, it can also be caused from a mutation. We believe my grandmother developed the disorder from a genetic mutation, as no one else in my family has ever had the disorder or has developed it as of...
problems within the specific ion channels known to cause the disease. The goal of the
Tetralogy of Fallot is a congenital heart disease which involves four different heart defects in one. The four different heart defects are a large ventricular septal defect (VSD), Pulmonary Stenosis, Right ventricular hypertrophy, and an overriding aorta. These congenital defects change the normal flow of blood thro...
The human genome is a remarkable system composed of over 3 billion DNA base pairs that encode for the characteristics that makes people distinctly human and unique themselves. Without the genome’s nearly flawless ability to self-replicate the human species would cease to exist. As incredible as this replication methodology is, it is not without its faults. Genetic mutations, though rare and typically harmless, can strike at any time and in various ways. Still, when they do cause harm the effects can be profound and impossible to ignore. Hutchinson-Gilford Progeria Syndrome (HGPS) is an instance where the mutation of just one nucleotide has devastating results. The Mayo Clinic defines progeria as a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. This study defines the disease of progeria by outlining symptoms and identifying causes that lead to its diagnosis. In addition, treatment methods and extensive research that give those affected by the disease hope for a brighter future are highlighted.
Debruyne, H., Portzky, M., Peremans, K., & Audenaert, K. (2011). Cotard's syndrome. 2(1), 67-72. Retrieved from www.slm-psychiatry.com
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
(Slide 5) Dilated cardiomyopathies results from a wide spectrum of genetic, inflammatory, toxic, and metabolic causes. However, at least 750,000 of the over 300 million U.S. population are likely to have idiopathic (ie: the cause is unknown) dilated cardiomyopathy (Hershberger). (Slide 6) Although many cases are currently classified as idiopathic, some examples of known causes include specific gene mutations, chronic excessive alcohol ingestion and other recreational drug use, chemotherapy, pregnancy, and viral myocarditis
Cardiofaciocutaneous syndrome may be generated through various genetic mutations. As mentioned before, there are four genes that can cause this condition to be brought about in an individual. The most frequent mutation of these is the BRAF gene, because it is responsible for approximately 75 to 80 percent of each case of the syndrome. The two genes, MEK1 and MEK2, are very much alike and together are the result of 10 to 15 percent of ...
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Genetics & Personalized Medicine. (2013). University of Ottawa Heart Institute. Retrieved on February 3, 2014 from: http://www.ottawaheart.ca/research_discovery/genetics-personalized-medicine.htm
Albinism is a very serious disease that could end up in death. Albinism is a recessive inherited defect in melanin, which is metabolism in which pigment is absent from skin, hair, and eyes. Albinism in hair, skin, and eyes is called oculocutaneous albinism. Humans that have oculocotaneous albinism are not able to produce melanin. These people have white, yellow, or yellow brown hair, very light ( usually blue ) eyes, and very pale skin. Their eyes may appear pink because they have very little pigment.
Ions are critical to human health. As defined by Dictionary.com, an ion is an electrically charged atom or group of atoms formed by the loss or gain of one or more electrons. The human body is the most intricate of ‘designs,’ despite the fact it is composed of basic natural resources called elements. The ions discussed in this paper include oxygen, carbon, potassium, and sulfur. A healthy body is composed of these ions, along with others (zinc, fluoride, iron, etc.). The absence of these elements could lead to an unhealthy body, and make it an easier target for diseases. The chemical formulas, charges, and properties will also be discussed in this document. Also, addressed is the essential role of the ion presented, the way in which the ion serves the body, the diseases that may result from deficiency, and the global distribution of these deficiencies. Ions are an essential part of human health. The ions that are present make the body’s daily functions possible, allowing it to be protected from cruel bacteria or diseases.