Point mutation

deafness (1). Among these genes the gene with the most significant impact on the population genetics and genetic counselling is the GJB2 (connexin-26) gene with the mutation c.35delG that accounts for the majority of mutations in deaf Caucasians (2, 3). Studies published so far have reported the differences in frequency of the mutation in different populations, and its variability in clinical impact on hearing impairment (4, 5). The disorder is highly heterogeneous; every population has a…

Metabolic diseases are when you have to little or too much of something. Also, metabolic diseases are usually common in autosomal diseases like Huntington’s. Huntington’s disease is caused by a polyglutamine expansion mutation. This means that “Striatal GABAergic medium spiny neurons (striatal neurons) are particularly vulnerable to HD, being progressively depleted in strong correlation with symptom severity (Oliveira, 2010 pg 1).” Huntington’s disease slowly diminishes…

This memorandum is to inform you of my interest in joining the Peer Support Program. Below I have gone into great detail about my personal life, as I feel that it is important in choosing the appropriate individuals for this program. I truly believe having someone on the peer support team that has experienced personally the stresses that we come across and how to overcome stresses. Recently (with in the past year), I have had the opportunity to realize the toll that this profession takes on…

Marfan syndrome is a strange disease. It is genetic, and it is very rare. Sadly, it makes leading a normal life harder. On the plus side it can be treated. Marfan syndrome is a disease that affects your connective tissue. Organs and eyes are not held in the correct position and fingers, toes, arms, and legs seem too long for their body. It also can limit the gripping ability in their hands. This disease is not contagious. It is inherited genetically because of nitrogen bases matching…

Farber lipogranulomatosis, or simply Farber’s disease, is a lysosomal storage disorder that involves the hydrolysis and use of lipids. A lysosomal storage disorder is a defect in the function of a lysosome, enzymes that hydrolyze large molecules and then move the fragments on to other parts of the cell for other uses. Farber’s disease is a rare, genetic condition that involves a deficiency in the enzyme, ceramidase. Ceramidase is a lysosomal acid that causes cell growth, cellular differentiation…

Ectodermal Dysplasia Jonathan Moon American Fork Junior High A2 2/24/17 Abstract Ectodermal Dysplasia is a group of conditions that interfere with the normal functions of skin, hair, nails, teeth or sweat glands. These abnormalities cause various issues with everyday activities such as eating, brushing hair, exercising, and blinking. This paper will explain how this disease occurs, its symptoms, diagnosis, and treatment. Causes of ED Ectodermal Dysplasia, or ED, is a genetic disorder that…

There are no relevant risk factors associated with Progeria but researchers have discovered that Progeria is caused by a genetic mutation in the LMNA gene which is necessary to produce Lamin A, a protein that helps maintain the structure of the nucleus in a cell. Due to this defection Lamin A cannot do it’s job properly and the nucleus is unstable. When comparing the structure of a…

HUNTINGTON’S DISEASE Huntington’s Disease is a primarily mental disease that has many different symptoms. Though the disease does mainly affect the mind and the brain, there are many physical effects that accompany it. The disease was first described by George Huntington in the late 1800s, however any further advancements in knowledge of the disease didn’t come until much later. People affected by this disease are affected in many different ways, and at many different times in their lives.…

Mutations are random. There are several reasons for mutations to occur. This essay will discuss what is a mutation, furthermore, it will examine different types of mutations that can occur, and it will inform you about how helpful and harmful mutations really are. Mutation is a change that occurs in the deoxyribonucleic acid sequence, gene or structure, due to mistakes that occur when the DNA is transcripted or because of environmental changes. Mutation occurs when there is a mistake in the…

gene, and thus, to Prader-Willi syndrome. UPD causes the affected individual to have two copies of chromosome 15 inherited from their mother instead of one copy from each parent. Prader-Willi syndrome can also be caused by a translocation, or by a mutation or other defect that inactivates genes on the paternal chromosome 15, however, this is very rare.…