Nonsense mutation

The use of technology has increased and due to technology it has become possible for researchers to test for diseases and maybe even cure them more often than before. Breast and Ovarian cancers are caused by inherited changes in genes such as BRCA 1 and BRCA 2. Genetic testing should be used to inform people of their being at high risk for cancer because knowing if someone has cancer can benefit the person in the long run. A person who is told that they have breast or ovarian cancer can…

Neuroendocrine tumors (NETs) include a heterogeneous group of neoplasms that can arise from various neuroendocrine cells in many organs and tissues in the body. These tumors are characterized by their ability to produce peptides that lead to different endocrine syndromes. Many patients have nonspecific symptoms and can easily be confused. It is not unusual for patients to suffer for a long time before NETs are diagnosed, and almost 50% of all patients with NETs have regional or distant…

about 1 in 8 million births around the globe. (Arancio, Pizzolanti, Genovese, Pitrone, & Giodarno, 2014). Because HGPS is so rare, it is extremely difficult for research on the biology of this disease to be conducted. The cause of HGPS is due to mutations to the LMNA gene, which is responsible for coding a…

exon 5), TAZ- Δ7 (lacking exon 7) and TAZ-Δ5;7 (lacking exons 5 and 7), TAZ-Δ5 is most common (Gonzalez 2005). Mutations in TAZ may be found in each of its exons and introns. The mutations include single nucleotide substitutions, insertions, partial gene deletions, large deletions of several exons, partial gene duplications and splice site mutations (Aprikyan and Khuchua 2013). Mutations in TAZ are associated with Barth syndrome (BTHS), an…

that some patients are not diagnosed until they are adults. Sometimes it even goes undiagnosed. Conversely, the disorder can leave some people with severe disabilities. Tuberous sclerosis may be inherited, or it can be the result of a spontaneous mutation within a person’s genetic makeup. Children who have a parent with the disorder have a fifty percent chance of inheriting it…

Diagnosis, Treatment and all sorts of other facts about the disease. Cause of MED Most cases in this disease will be caused by a mutation in the specific genes. Genes usually work an important role in providing instructions in the making proteins which play a critical role in a lot functions within the body like strengthening the bones. Usually when the mutation…

The question I chose for my Student Inquiry Project is “Could Spider Silk Be Used To Create Military Grade Body Armour”. This is due to the fact that prior to SIP beginning I had been reading up on the strengths and potential uses of spider silk. Once I had decided that I wanted my question to revolve around spider silk, I began further research on the uses of spider silk and found that it varied from medical uses such as artificial skin and bandages to commercial uses such as airbags in cars.…

problems. However, it is found that there is a genetic link in some cases of early onset, familial Alzheimer’s. Familial Alzheimer’s is caused by single gene mutations on chromosomes 21, 14, and 1 (Disease Genetics). These mutations cause formation of abnormal proteins which eventually can lead to the plaques and tangles that form in the brain. Mutations on chromosome 21 cause the formation of abnormal amyloid precursor protein, or APP (Disease Genetics). Normal APP plays an essential role in…

macromolecule formed by the interaction between multiple polypeptide chains. Hemoglobin consists of two alpha helices and two beta bleated sheets, known as globular subunits.15 As Figure 1 depicts, sickle cell disorder results from a single nucleotide mutation which leads to the substitution of glutamic acid by valine in the beta globular subunits, upsetting the typical protein structure which leads to the…

Drosophila melanogaster are often used as a model organism in laboratories due to the many advantages that the organism provides: short generation time, sexual dimorphisms, cost effectiveness and easiness to maintain, amongst others. The generation time of Drosophila is around 9 – 11 days, and phenotypes in men, such as sex combs, heavily pigmented abdomen, and shape of abdomen and size, makes of Drosophila melanogaster an effective organism to study. In Drosophila melanogaster, the males do…