Leigh Syndrome Essay

The primary cause of ASD is an idiopathic process and so cannot identify the precise disease mechanism. ASD is a progressive disease and is characteristically diagnosed during early childhood and can persist throughout an individual lifetime, needing lifetime specialist support with functional impairment (John Hopkins, 2014). Studies has shown that as an individual diagnosed with ASD grows they have an significantly increased risk of developing medical and psychiatric disorders which is contributed from the biological make-up of the individual (Perkins et al, 2012) including dyslipidaemia, gastrointestinal problem, epilepsy hearing, visual impairments, asthma, hypertension, heart disease, cancer, osteoporosis and autoimmune

Duchenne muscular Dystrophy (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015)

This disease affects the nerve cells by enabling them to send electric impulses to the muscles which ultimately makes the muscle wither away and stop working. The nerves targeted are actually

It is predicted that by the year 2020, more than 40 million people in the world will have this progressive neurological condition (Morris 579). This disease occurs when the nerve cells that create dopamine are slowly destroyed. Without dopamine, the nerve cells in that part of the brain cannot properly send messages and it leads to a loss of muscle function (Kantor 3).

Duchenne muscular dystrophy is the most common genetic disease fatal in children, it is a severe and rapidly progressive muscle disease with symptoms that first become evident due to the affected child showing early motor developmental delay; for example, presentation of Gower’s sign, a diagnostic indicator of proximal muscle weakness characterised by the affected having to “walk” their hands up their body to stand due to little strength being present in the lower limb.

Duchenne muscular dystrophy is a genetic disease that pertains only to males caused by a defective gene and normally leads to many problems affecting a child’s leg movement. This disease got its name from the neurologist, Guillaume Benjamin Amand Duchenne. He was a very consistent doctor who followed many patients medical records. He diagnosed one of his patients with muscular dystrophy and then the disease picked up his name, due to his founding.

This disease affects the nervous system. To affect this system it destroys the nerve cells in the brain and spinal cord. When the muscles have no nourishment in the muscles they slowly waste away.

Mitochondrial dysfunction and oxidative stress have been consistently observed in brains of PD patients. There is increasing pharmacological and genetic evidence sustain a link between PD and mitochondrial respiratory chain dysfunction, particular a deficit in mitochondrial complex I (Franco-Iborra et al., 2015). Accidental exposure to 1-methyl-4-phenyl-1,2,3,4-tetrahydropyridine (MPTP), an mitochondrial complex I inhibitor, has been known to result in acute and irreversible syndrome that was almost indistinguishable from PD (Calne and Langston, 1983; Langston and Ballard, 1983). Later on, mitochondrial complex I inhibition has been identified in the brains of sporadic PD patients (Schapira et al., 1990). In addition, chronic systemic inhibition of mitochondrial complex I by pesticide rotenone has been found to link to sporadic PD (Betarbet et al., 2000). Interestingly, mitochondrial complex I deficiency has been found not only in the postmortem substantia nigra but also in cerebral cortex (Schapira et al., 1990), which is consistent to the cortical glucose hypometabolism observed in PD patients. Indeed, the pathology of PD has been found to involve several brain regions other than the SNc and many neurotransmitters other than dopamine (Lang and Obeso, 2004a, b). PD models using MPTP and rotenone have now been used extensively in PD research (Beal,

The genetic disease known as Muscular Dystrophy first appeared in history in the year 1830. It was included in a written report by the Scottish Neurologist Sir Charles Bell. The disease soon became more prominent, where it appeared in several medical journals from the 1850’s and onwards. Several young boys were described as having a weakness which progressively worsened, along with problems walking. The disease led to their eventual premature deaths. A French Neurologist known as Guillaume Duchenne studied 13 boys who all had the most common and severe form of Muscular Dystrophy, soon to be known as Duchenne Muscular Dystrophy (NIH 2016). Muscular dystrophy refers to a group of more than 30 genetic diseases including Distal MD, Emery-Dreifuss MD, Facioscapulohumeral MD, Limb-girdle MD, Becker MD, Congenital MD, Myotonic MD and Oculopharyngeal MD. This review however will just focus on Duchenne muscular dystrophy.

Mitochondrial Neurogastrointestinal Encephalopathy disease (MNGIE) is an extremely rare disease that affects the process of muscles and shows up in equal numbers of men and women. Only 70 cases of this disease have been reported. A mutation of the thymidine phosphorylase causes MNGIE and lowers the production of adenosine triphosphate production.

Mitochondria are often referred to as the powerhouses of the cells. They generate the energy that our cells need to do their jobs. For example, brain cells need a lot of energy to be able to communicate with each other and also to communicate with parts of the body that may be far away, to do this substances need to be transported along the cells, which needs lots of energy. Muscle fibres also need a lot of energy to help us to move, maintain our posture and lift objects.

Mitochondria are rod-shaped organelles that can be considered the power generators of a cell. They convert oxygen and nutrients into ATP. In turn, ATP powers most of the cell’s chemical reactions that allow the cell to function. Without mitochondria, certain cells would not be able to work and do their job. The cells would not be able to obtain enough energy to survive. A cell’s mitochondria relates to workers because they supply the cell with energy, just like how workers supply their energy to do their job. The mitochondria in a cell are responsible for providing energy so the cell can function, like how workers do certain tasks to keep the business thriving. Mitochondria are found in both plant and animal cells. However, they are found in

According to The U.S. National Library of Medicine (November 1, 2016), The mitochondrial gene most commonly mutated by Leigh’s syndrome is MT-ATP6 which provide instructions for a protein that makes up one part of complex V, an important enzyme in oxidative phosphorylation that generates ATP in the mitochondria. The mitochondrial gene mutations that cause Leigh syndrome impair oxidative phosphorylation. Although the mechanism is unclear, it is thought that impaired oxidative phosphorylation can lead to cell death in sensitive tissues, which may cause the signs and symptoms of Leigh syndrome. This organelle is very important to each cell in all that I read there is very little that can be done and will most likely result in death. Based on several sources there is no treatment for Leigh’s Disease The Gale Group (2005), states that Treatment for Leigh syndrome is aimed at easing the disease-related symptoms and involves neurologists, pediatricians, clinical geneticists, nurses, and other related caretakers. Psychological counseling and support for family members caring for a child with Leigh disease is often encouraged. Currently, there is no treatment that is effective in slowing the progression of Leigh disease. Thiamine or vitamin B1 is

central nervous system disorders such as cerebral palsy and spinal cord injury (spina bifida); motor neuron disorders such as spinal muscular atrophy; peripheral nerve disorders such as Charcot-Marie-Tooth disease; neuromuscular junction disorders such as congenital myasthenia gravis; and muscle fiber disorders such as Duchenne's muscular dystrophy currently have no known definitive treatments or cures (p. 163).

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