Mitochondrial Neurogastrointestinal Encephalopathy Disease ( Mngie )

ATP - Adenosine Triphosphate: is a complex chemical compound, which is formed with the energy that is released from food and stored in all cells, but particularly muscles. Only from the energy released by the breakdown of this compound can the cells perform work. The ATP-PC System is an anaerobic process which means that fast bursts of energy for short, powerful bursts are produced and there is no oxygen involved in this process. www.ptdirect.com/anatomy-and-physiology/energy-systems/the-atp-p-system The fuel source for this energy system is Creatine phosphate. A muscle cell has some amount of ATP within it that it can use immediately, but not very much. To replenish the ATP levels quickly, muscle cells contain a high-energy phosphate compound called creatine phosphate. The phosphate group is removed from creatine phosphate by an enzyme called creatine kinase, and is transferred to ADP to form ATP. The cell turns ATP into ADP, and the phosphagen rapidly turns the ADP back into ATP. As the muscle continues to work, the creatine phosphate levels begin to decrease.

ATPase were increased? Are there diseases or other conditions that might enhance the activity of this

The word encephalitis is derived from two Greek words. Enkephalos, which means brain, and itis, which means inflammation. Encephalitis was defined by Sir John Burton Cleland, a pathologist and naturalist. When he defined it, it was named ‘Australian X disease’.

In the United Kingdom alone, 150 new born children per year suffer from life threatening, mitochondrial diseases. These diseases vary in severity from person to person, making them difficult to diagnose, and they inflict an array of ailments such as neurological problems, muscle weakness, visual or auditory impairments, heart, liver, and kidney disease,

People suffer from many different mental diseases that lead to death. One of these diseases is CTE. This disease is found most commonly in athletes, military veterans, and others with the history of repetitive brain trauma. These athletes are mostly football players who suffer from repetitive brain injury from head on collisions. CTE stands for Chronic Traumatic Encephalopathy which is a progressive degenerative disease of the brain found in people with a history of repetitive brain trauma. Chronic Traumatic Encephalopathy or CTE is a very consequential condition that should be taken seriously to help prevent health disorders in the future.

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.

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,

Myotonic Muscular Dystrophy, abbreviated MMD, is a disease that affects the muscles and organs of a body. To break Myotonic Muscular Dystrophy down, the word myotonic is the adjective for myotonia, which is an inability to relax muscles at will. Muscular dystrophy means the gradual muscle degeneration, which weakens and shrinks muscle tissue. Knowing the breakdown of MMD, this disease summed up means a person is restricted to relax their muscles at their own will whenever they would like ("Overview Myotonic Muscular Dystrophy"). MMD is also known as "Steinert Disease", which was named after a German doctor who first described the disorder in 1909 ("Facts About Myotonic Muscular Dystrophy").

Pathophysiology: This form of muscular disease is caused by a deficiency in motor neuron proteins called SMN or survival of motor neurons. These proteins are necessary for normal motor neuron function. The deficiency is caused by a mutation on chromosome 5 in the gene called SMN1 most commonly. The adjacent SMN2 genes can sometimes compensate for deficient SMN1 genes. Recent research has found that the lack of SMN may, also, affect muscle tissue directly and not just motor neurons.

The discovery from the Scripps Research Institute in Florida shows promising results in tackling down the cause of Parkinson’s, and their outcomes led to a funding by the National Institutional Disorders and Stroke Research (NINDS). Research staff within the campus discovers that many diseases that relate in twisting a protein from its original structure will result in a cellular death but it isn’t due to the deformed shape. According to the article “Scripps Florida Scientists' 'Mad Cow' Discovery” (2015), one primal cause that leads to Parkinson’s is the lack of “NAD+” which later prohibits the proper energy function of the mitochondria. Researchers further delved into the study to find out this is preventable, by providing the misshaped protein

Mutations in the POLG gene are related with several mitochondrial diseases, plus Alpers' disease, ataxia-neuropathy disorders, and dominant and recessive types of progressive external ophthalmalgia. An example of the effects of Alpers was an infant was born with a normal birth with no complications. His weight was 8 pounds, the normal weight for a newborn baby. Everything was going well his first 18 months; he was crawling, walking, and even spoke at 12 months. But when he around 19 months old, he experienced anorexia, diarrhea, and vomiting. This was due to lethargy and being hypertonic. He had elevations in liver transaminases and at 30 months developed seizures. He was unable to talk and lost ability to walk at 38 months. After several more

Deleterious MED12 Mutation in a Patient with Mitochondrial Dysfunction Expands the Phenotype of FG Syndrome

There are hundreds of neurodegenerative diseases (NDD) and the etiology for most of the random conditions remain a universal mystery (Nieoullon 2011). A deterioration of specific functions of the neuron cells of the central nervous system is the most common characteristic of NDD. Neurons are responsible for transmitting essential information to other nerve, muscle and glandular cells (Przedborksi, Jackson-Lewis 2003). Emerging research has recently identified mitochondrial dysfunction as a recurrent elemental link in numerous neurodegenerative disorders (Ghano,

or this units discussion I will be writing about Leigh’s Disease. According to the National Institute of Neurological Disorders and Stroke (December 16, 2011), “Leigh’s disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability,