Introduction
For many years, scientists and other researchers have sought to undertake tones of research experiments with the aim of discovering the structure of reliable ways of diagnosing and subsequently curing human diseases. Without a doubt, their efforts paid off with the discovery of many medicinal drugs and injections such as the deoxyribonucleic acid discovered by Watson and Crick fifty years ago (Teng, 2009).
Years down the line, things have changed, and the future looks promising as far as heart disease treatment is concerned. With the help of genomic tools and an array of leukemia, important mechanistic insights have come into being. According to the Academic Search Premier that discuses missense mutations that are relevant to human cardiac disease, illnesses resulting from cardiovascular problems are the number one cause of deaths in America and other countries. This paper will seek to discuss the role played by mitochondrial dysfunction in cardiovascular disease.
Aim of the study
The article “Serial Review” by Victor Darley paints a clear picture of how cardiovascular disease endangers the future of adults, as it is the leading cause of morbidity and mortality worldwide since 1900. This indicates that the leading cause of cardiovascular disease is atherosclerosis, which accounts for three-fourths of the total deaths related to heart diseases (Darley, 2004). The process is rigid as injured atherosclerosis develops.
Consequently, this development causes the accumulation of lumps of lipids in the area with the injured artery. According to facts laid upon by mitochondria susceptibility and its role in mediating for damages due to increased nitro oxidative stress, it is true to say that very few people understand this behavior. Given the explanation, the article is aimed to discuss the aspects of relating mitochondrial function and damage to the development of cardiovascular disease and the risk factors involved.
Genes involved
Because mitochondria are responsible for the reaction of nitrogen and oxygen species that mediate alterations and functions, they are very sensitive. Additionally, since they are the main producers of oxidative energy required by the cell, they act as cell power plants (Teng, 2009). Sources that maintain mitochondrial DNA mutations have close links with many reported cases of human diseases.
Furthermore, marked clinical heterogeneity shows that deficits of endocrine, renal, cardiovascular, and neuromuscular functions are also related to missense mutations. This indicates that the gene involved in this missense mutation in relation to cardiac diseases is the mitochondrial gene. When the cardiac cells experience abnormal functions, they begin to face cardiac complications commonly referred to as cardiomyopathy and cardiac arrhythmias (Darley, 2004).
The biological role of this gene is to distribute tissues. In simple terms, it rearranges and deletes or inserts mutations. This means that single-base mutations result in missense mutations or simply alter the protein function.
In addition, this gene (mtDNA) mutates or synthesizes the rNA and tRNA proteins. This happens because the rearrangement of mutations normally leads to the deletion of a number of mitochondrial encoded genes, which are also associated with tRNA thus causing defects in mitochondrial protein synthesis (Teng, 2009). Documented evidence asserts that the onset of subacute human’s bilateral blindness marks the presence of missense mutation. This effect takes place either sequentially or simultaneously with defects associated with cardiac conditions. Those who suffer from these defects lack additional neurological symptoms.
Mutation nomenclature
Mutation nomenclature is the biological yet common name used to represent the mutation types. Mutation nomenclature is also the description given to sequence variants (Darley, 2004). In missense mutation, one can use deletion, insertions, and intronic mutations to describe the sequence variants of this nomenclature. In deletion, the gene leaves out the nucleotides that normally result in a shift in the frame reading that ultimately truncates the protein.
On the other end, insertions are the added nucleotides that also facilitate the shift that usually truncates the involved protein while intronic mutations take place in the areas between the coding regions otherwise known as the exons.
Mutation linkage
A missense mutation was first linked with Leber’s hereditary, which is an optic neuropathy (Darley, 2004). It is also associated with myopathy, which is an abnormal disease or condition of the skeletal muscle. This condition is usually described by subacute bilateral blindness and it affects both eyes of a human. The condition affects the eye either sequentially or simultaneously. Research findings reveal that this condition affects mostly adults with males facing a greater risk of infection than females. This aspect suggests that the secondary factors of this condition influence the onset of the disease (Teng, 2009).
Public health implications
In conclusion, the study has enabled the researchers to document that by virtue of mitochondria’s ability to modulate subcellular levels of oxidant via a stringent respiratory interaction between regulation and the relative balance of RNS and ROS, mitochondria are able to critically function in signaling the growth and subsequent death of some cells. Any factor that leads to alteration of the balance between cells can as well change the mitochondrial performance.
Consequently, this can influence the cell. This knowledge has led to greater insights into mitochondrial function in cardiac diseases as missense mutation has revealed the process by which cells develop, grow, and die (Teng, 2009). Based on this research, the lives of people are safer than never before following the fact that cardiovascular diseases account for a huge number of deaths in many countries. Doctors can now understand the best ways of treating these heart diseases or conditions with much ease.
References
Darley, V. (2004). Mitochondrial dysfunction in cardiovascular disease. Web.
Teng, S., et al, (2009). Modeling effects of human single nucleotide polymorphisms on protein-protein interactions. Biophysical Journal, 96 (6), 2178–2188.