Nonsense mutation

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…

Mutation can be a naturally reoccurring thing a concept that Charles Darwin helped explain way back when. For example, people with blue eyes (about 8% of the population) have a genetic mutation which changes the amount of melanin in the iris causing it to turn blue and be more sensitive to light. On the other hand is a man made mutation, this is what most people think of when they hear the word mutation. It's something that has been changed or is not…

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.…

Cornelia de Lange Syndrome Introduction Cornelia de Lange Syndrome is rare genetic disease it can affect multisystem disorder that has very serve intellectual disability starting at the time of 2nd trimester. The syndrome is often refer as also Brachmann de Lange syndrome or de Lange syndrome. Its most obvious symptoms are facial features such as body hair (hirsutism) with eyebrows that are arched and meet in midline (synophrys). This paper is inform the more detail about Cornelia de Lange…

can mean the difference between a normal life and a very difficult, painful, or even very short life. With technological advances in the field of genetics, such as the CRISPR-Cas9, it is now possible for geneticists to eliminate these single gene mutations that are lethal, extremely dangerous, or unbearable to the human race. Harlequin ichthyosis, cystic fibrosis and Smith-Lemli-Opitz syndrome are all caused by single genes and can potentially be edited out of the human genome. Harlequin…

For so many people, genetic disorders are a major issue and can cause many emotional and physical problems. One genetic disorder is Celiac, this is a disorder in which your small intestines are not able to work properly.This disease was discovered when some men were digging and found a woman that had died from a problem in her small intestines. They discovered Celiac about 2000 years ago. During 250 A.D the doctors called this disease “ koliakos” this means “suffering in the bowls” in greek.The…