BIOL*1090 The Myostatin Gene: Double Muscle Mutation The myostatin gene holds many purposes, but its main importance is to regulate muscle mass, predominantly in the skeletal muscle (Lee 2004). Vertebrates that possess this gene are able to regularly control a normal amount of muscle mass because this gene works as a negative regulator of muscle growth (Lee 2004). However, as in any other gene, complications can arise in transcription or translation that can compromise its effectiveness. A mutation in the myostatin gene is known as muscular hypertrophy or double muscling (Bellinge et al. 2005 ). This mutation is accompanied by a unique phenotype which is characterised by the hypertrophy, or enlargement of muscles as well as the decrease in fat accumulation (Bellinge et al. 2005). This particular mutation not only affects the size of the muscle fibres but also the quantity or hyperplasia (Bellinge et al. 2005). However, it was found that low inhibitors of this gene will cause …show more content…
For instance, the muscle degenerative disease sarcopenia or muscular dystrophy could be benefited from the inhabitation of this gene (Lee 2004). In the two studies conducted in regards to this topic when this gene was suppressed there was also evidence of a decrease in fibrosis, which leads to promising hopes for regeneration of some degenerative diseases (Lee 2004). However, there are still many doubts and uncertainties surrounding these experiments (Lee 2004). Myostatin is a gene involved in muscle regulation, but if the genetic code is altered the results can be extreme, in this case resulting in a weight that is almost 50% ( in homozygous individuals) more than those without the mutation (Bellinge et al. 2005 ). Although there are downsides to this mutation, genes and their mutations allow for a further understanding of the genetic
FOP occurs randomly and is not inherited. Experts believe that one cause of fibrodysplasia ossificans progressiva is born with mutations in the ACVR gene what provides the body with instructio...
Homeostasis is the biological process that maintains a stable internal environment despite what occurs in the external environment. Chemicals and bodily functions are maintained in a balanced state so the body may function optimally. There are various systems in the human body that require maintenance through the processes of biochemical checks and balances so they may function properly. One of these systems includes the rise and fall of blood glucose and is under the control of the homeostatic regulation process. Homeostasis is essential in blood glucose regulation as high blood glucose levels (hyperglycaemia) and low blood glucose levels (hypoglycaemia) are dangerous and can affect the human body in many ways and can also lead
The X-linked form of Emery-Dreifuss muscular dystrophy is caused by the EMD gene that codes for the ubiquitous protein called Emerin. The EMD gene is found on chromosome Xq28. The gene responsible for the X-linked form was identified in 1994. It is located on chromosome Xq28. The STA gene is 2100 bp in length, consists in six exons and encodes 762 bp mRNA. Its 34 kD protein product of 254 amino acids has been designated 'emerin'. Emerin is a protein that is part of the laminar-association protein family. Th...
This condition is said to start within the sacromeric proteins, as past studies has called this disorder ‘the disease of the sacromere’ 6. The muscle around the left ventricle is so strong that is does not relax enough after contraction to regenerate blood back into the heart 5. Hypertrophic cardiomyopathy was discovered in approximately 50% of young individuals who died suddenly 5. A recent study observed the genes associated with hypertrophic cardiomyopathy. Within 20 sacromere and myofilament related genes, there were 1400 mutations noted in HCM 6. The mutations within the sacromere prevent normal shortening that causes the muscle to contract stronger, reducing relaxation. However, all the mutated genes are not proven to cause hypertrophy. The MYH7 gene seems to be the most frequent as 25-35% of patients with mild or severe HCM had this gene present 6. Despit...
...re out how get only one gene in the right cell, how to keep the gene from impairing any other functions and how to get the gene to produce the right amount of protein. Some researchers are trying a different approach; that of myoblast transfer therapy. This school of thought attempts to fuse healthy, immature muscle cells with dystrophic cells to make hybrid muscles that function normally. Unfortunately, initial tests have not fared very well because the injected myoblasts do not seem to travel very far from the injection site. The last type of research deals with a protein called utrophin. It is hoped that this protein could functionally take over for dystrophin. Scientists are trying to discover a chemical that will upregulate utrophin production without disrupting anything else in the body.
Muscular dystrophy (MD) is a genetic disorder that weakens skeletal muscles, the muscles that enable the human body to move. People with muscular dystrophy have missing or incorrect information in their genes, which prevents them from making the proteins they need for healthy muscles. Due to fact that muscular dystrophy is genetic, it is not contagious or contractible from another person; a person must be born with the problem.
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
There are several classification of mycotoxins base on the field of study. Different researchers grouped mycotoxins according to their area of study and the toxicity levels. For example, the Cell biologist grouped mycotoxins into generic classes such as teratogens, mutagens, carcinogens, and allergens. While the clinicians classified mycotoxins base on the body organs they affect such as hepatotoxins, nephrotoxins, neurotoxins, immunotoxins, and others. The organic chemists classified mycotoxins base on their chemical structure including lactones, coumarins, and so forth. Base on their biosynthetic source mycotoxins are grouped by the biochemists as polyketides, amino acid-derived
Sarnat HB Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF,eds.Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap601
There are several classification of mycotoxins base on the field of study. Different researchers grouped mycotoxins according to their area of study and the toxicity levels. For example, the Cell biologist grouped mycotoxins into generic classes such as teratogens, mutagens, carcinogens, and allergens. While the clinicians classified mycotoxins base on the body organs they affect such as hepatotoxins, nephrotoxins, neurotoxins, immunotoxins, and others. The organic chemists classified mycotoxins base on their chemical structure including lactones, coumarins, and so forth. Base on their biosynthetic source mycotoxins are grouped by biochemists as polyketides, amino acid-derived mycotoxins, etc. The physicians according to the illnesses they
The ANS is part of the peripheral nervous system, being split into sympathetic pathways, which prepare the body for action and parasympathetic pathways which prepare the body for rest. This regulates the functions of the body and some of the muscles automatically.
... absence of insulin receptor gene rearrangement, which could account for the severe insulin resistance (ncbi.nlm.nih.gov).
Genetics plays a major role in obesity; inherited genes sometimes contribute to the accumulation of fat in the body. Over 200 genes have effect on the weight having repercussions from physical activity, food choices and metabolism. Therefore, genes may increase the vulnerability of a person to become obese. Family eating patterns and social tendencies can also trigger obesity. Moreover, environmental circumstances such as availability of food high in calories and fat and the increase of the portions and combination selections in meals contribute to the development of fat accumulated for years in the body (Whitney & Rolfes, 2011, pg. 277).
proactive measures against recurrence and relapse of the disease can be made. Molecular medicine in genetics will also improve the design and testing of new drugs.
One might wonder what exactly diabetes is. Most know that a person with the disease has to keep a close eye on his or her blood sugar. But, people who do not have diabetes do not know what it really is. Diabetes is the result of high blood sugar. Insulin helps the body get energy by absorbing carbohydrates in the foods people eat every day. Sometimes the body cannot use insulin efficiently or it just cannot make enough of it. This is when diabetes is developed. If glucose cannot be absorbed then it will build up in the blood. High blood sugar can damage nerves and blood vessels. It can lead to heart disease, stroke, kidney disease, blindness, dental disease, and amputations. One with diabetes can also be more apt to get other diseases, depression, and have issues with pregnancy. (NDIC, 2011)