DNA repair

LMNA (C1824T)     Patients who suffer from HGPS are mostly affected by the same single base substitution mutation within the LMNA (C1824T) gene. 90% of these patients suffer from this particular mutation (Prokocimer 2013).  A single base substitution mutation is where one "letter" is not copied right and it in turn throws off the entire sequence, which could result in coding different amino acids and also could code to "stop" and form an incomplete protein of which may not function correctly, or

“Specific connectivity” is used to prioritize the molecule to add to a growing network. As the network grows, IPA evaluates how much a new gene’s neighborhood overlaps the current network and selects the molecule that overlaps the most. “Overlap” is the number of molecules that are similar compared to the total number of molecules. “Specific connectivity” is computed by dividing the number of molecules found in the intersection of the neighborhood and the network by the number of molecules in their

Alzheimer’s disease is a progressive mental deterioration that can happen in middle or old age, due to generalized degeneration of the brain. Alzheimer’s disease is one form of dementia that gets harmful over time. Dementia is a loss of brain function that occurs with other diseases such as Alzheimer’s. Scientists believe that Alzheimer’s disease results from genetics, lifestyle, and environmental factors that impact the brain. Alzheimer’s disease damages and kills brain cells and it also leads

Amyotrophic Lateral Sclerosis (ALS) has two distinct cases, familial ALS and Sporadic ALS. If a person is diagnosed with familial ALS, it means that another family member already has ALS or a similar disease, such as frontotemporal dementia (FTD). There are roughly 5 to 10% of cases that are caused by known genetic mutations. In cases concerning familial ALS (FALS), it is known to be caused by genes, although the gene may not be identifiable in all forms of the disease. Most ALS cases are considered

Transposable elements are nucleotide sequences that can be added to the DNA sequence and have multiple ways of causing mutations. When inserted transposable elements can induce deletions, duplications, and even inversions. All of these mutations as explained before can change the DNA sequence which thereby changes the mRNA and proteins produced. There are two main categories of how these different mutations occur, spontaneous

Decreased expression of ARF in human cancer Consistent with the findings in mice, frequent mutation or deletion of the ARF/INK4a in numerous human cancers was discovered (Refs. 41, 68, 69; Table 1). It is difficult, however, to assess the relative importance of p16INK4a and p14ARF individually in humans since mutation or deletion at the ARF/INK4a locus frequently affects both proteins (Ref. 8). Generally, exon 2 is the site of mutation, affecting either p16INK4a, p14ARF, or both proteins. Some

Proteus syndrome (PrSy) (OMIM:176920) is a disorder characterized by asymmetric overgrowth of the parts of the body :cerebriform connective tissue nevi; epidermal nevi; vascular malformations; and dysregulated adipose tissue. Its etiology is unknown ,this leading to frequently misdiagnosed of this disorder (Biesecker, 2005). Many types of neoplasms have been associated with PS, including ovarian, testicular, meningeal, and parotid tumors. Some tumors are rare in the general population under 20

where the repeat section’s length changes in such a way that it leads to a larger size than the normal one (Quarrell, 2008). The Huntington gene is mainly located on the short side of chromosome 4. Additionally, this gene contains some level of 3 main DNA bases (Hayes & Reichsman, 2009). As such a variety of

It makes a chain of proteins. Chains of proteins make molecules. Making cells, tissues, and organs. A mutation is a tiny change to the DNA code. But changing DNA doesn't make new proteins all the time, and certainly not proteins that do anything useful. And even if a mutation did make a new protein, the chance of that protein making a radically different (but useful!) macro-molecule is really low

or change in DNA. There are many types of mutations that can occur. Depurination and deamination are common mutations that happen spontaneously. Depurination is a hydrolysis reaction that leads to the loss of purines in DNA. Deamination is also a hydrolysis reaction, and the cause of this reaction is an amino group gets detached. These types of mutations cause an alteration in the base sequence of amino acids and also effect the way a gene reads a protein. Another cause of DNA mutations may