Disorders In The Mitochondria

Mitochondrion function is to produce energy from sugar. This is parallel to a restaurant inside a hospital. The employees eat (carbohydrates) from the hospital restaurant and then their bodies convert it to energy.

The genes which encode for the mitochondria’s component proteins are in 2 separate genetic systems in 2 different locations. One of which is the cell nucleus, but the other is inside the organelle itself. There are relatively few genes inside the

Mitochondria, dubbed the ‘powerhouse of the cell’, are a type of organelle present in most human cells. Their primary function is to generate Adenosine Triphosphate (ATP), the cell’s principal source of chemical energy. Unlike most other organelles, mitochondria store their own set of genetic material, distinct from the DNA situated in a cell’s nucleus. Although this ‘mitochondrial genome’ represents only 0.1% of a cell’s genetic information, it often plays a significant role in development.

An example of one such category of muscular dystrophy is distal muscular dystrophy. distal muscular dystrophy causes atrophied muscles due to a damaged DYSF or ANO5 gene. The DYSF gene aids in the creation of dysferlin. Dysferlin is found in the thin sarcolemma of the muscle tissue which is thought to aid the sarcolemma in repairing muscles. Since the production of dysferlin is inhibited by this form of muscular dystrophy, the muscles are not able to be repaired, leading them to become progressively more damaged and ineffective over time. Abnormalities in the other ANO5 gene, which produces anoctamin-5 affect muscles by reducing if not eliminating said protein. ANO5 is thought to provide transport for chlorine ions to the muscle cells of a muscle. These two genetic disorders are usually closely linked and it is common for the abnormality of one gene

DMD is caused by a mutation in the X-linked dystrophin gene, which results in a dysfunctional dystrophin protein. Dystrophin is a cytoskeletal protein that provides mechanical stability to muscle cells by connecting the muscle sarcolemma to the basal lamina of the extracellular matrix (ECM), and without it there, the muscle cells typically undergo a process of degeneration and regeneration. This process is limited by the survival of satellite cells present since satellite cells can only undergo mitosis a limited amount of times. Sarcolemma instability typically results in excess intracellular amounts of both sodium and calcium, which causes ATP depletion and mitochondrial uncoupling (Horn & Schleip, 2012). Satellite cells only have a limited number times they can undergo mitosis, and once a patient can no longer generate healthy muscle cells, the patient will typically experience cell death. This cell death and necrosis usually

such as walking and active sports. The mitochondria are the engines of our cells where

Mitochondria are important because they allow our bodies to function by converting oxygen that we breathe in and the nutrients we ingest from food to energy we can use in the form of ATP (Adenosine triphosphate). This is done through aerobic respiration (requires oxygen), without the many mitochondria we have in our body we would not have sufficient energy from anaerobic respiration for our metabolic requirements. (Link its importance to its other functions- what would happen if it could not perform its functions e.g. lack of regulation of apoptosis and cancer- links to essays overall argument).

The mitochondria has been known as the powerhouse of the cell. What does that even mean? Well, what it means that the mitochondria does all of the cell energy conversion. It takes nutrients from the cell and transforms it into viable ATP. ATP, molecule adenosine triphosphate, is the energy that cells can use. The process in turning nutrients into ATP is called ATP Synthase. The first part of ATP synthase is an ending of cellular respiration. The mitochondria plays a small but large role in the cell. The structure of the mitochondria plays a huge part of cellular respiration. Mitochondrial structure has two membranes an inner and an outer. Inside the inner membrane you have the matrix and the cristae. The first part of cellular respiration is glycolysis, it is made outside of the mitochondria in a gel like fluid called the cytoplasm. Next, is the citric acid cycle, also known as the Krebs cycle, named after the German researcher Hans Krebs, goes in through the outer membrane. Enzyme Acetyl CoA enters and combines the two carbon groups with another four carbon groups. The result is six carbon molecules citrate, which are acidic. The next part in the Krebs cycle is that the hydrogen atoms are stripped and produce NADH molecules. The final Krebs step is; ADP is transferred to ATP the succinate is oxidized forming another four carbon molecule. The two hydrogen carbons react and their electrons transform from FAD to FADH2. The Krebs cycle makes only about 4 ATP and in the

The molecule is an important part of the inner part of the mitochondria in which the actual production of the energy occurs.

Mitochondrion’s most important job is to produce energy through cellular respiration. Mitochondria does this by taking in nutrients from the cell itself, breaking it down and then turning it into energy. Then, the energy gathered is utilised by the cell to carry out various functions, hence this organelle is also known as the ‘powerhouse’ of the cell. Its purpose is to keep the cell full of energy.

Function: Mitochondria contain enzymes which are involved in respiration. It is where ATP is produced consequently from the result of aerobic respiration; producing energy. Mitochondria are also used for metabolism which involves a lot of energy. Also it experiences chemical reactions and releases many hormones such as glycogen and insulin around the body which also requires a lot of energy. In addition to this, mitochondria are also involved in protein synthesis.

Fig. 5 A. Mean number of mitochondria/µm2 ± SEM within 80 µm of the soma for wildtype mitochondria (WT - red) and Rett syndrome mitochondria (RTT – blue), both after 10 days in vitro. B. Mean number of mitochondria/µm2 ± SEM within 16-32, 32-48, 48-64 and 64-80 µm of the soma for wildtype

The symptoms associated with the syndrome are hypoglycemia, encephalopathy, fatty liver, elevated ammonia levels in the blood and elevated liver function enzymes. This lack of mitochondrial metabolism can explain the hypoglycemia due to the body being unable to create ATP. With the lack of ATP production, the body would naturally deplete its glucose stores to gain more energy. The metabolic failure in the liver causes the elevated liver function enzymes, elevated ammonia levels, and over time the fatty liver. The encephalopathy is caused by the increased

Leigh Syndrome is a neurological disorder that occurs throughout the early stages of childhood (Wiley) In infancy, symptoms may include severe vomiting and respiratory issues, as well as failure to thrive (USEFUL). LS in infants causes death in up to 75% of those affected, by the time they are two or three years old they experience critical organ failure (SOLACE). And as much as 25% of LS affected people survive past their childhood which is rare but possible (SOLAC).

Mitochondrion is an importance structure that lies in the cytoplasm area. Mitochondrion is the plural word for mitochondria, which is the key organelle that converts energy from one form to another. Mitochondria changes the chemical energy stored in food into compounds that are more convenient for the cell to use. The mitochondrion contains two special membranes. The outer membrane surrounds the organelle, and the inner membrane has many folds that increase the surface area of the mitochondrion.