Luft syndrome can be further referred to as hypermetabolic mitochondrial syndrome involving the uncoupling that occurs as an abnormality in the mitochondrial membrane. ETS (electron transport system) that is connected as a loosely-coupled ATP device abnormally functions due to the increased ATP synthesis followed by a loss of heat that is dissipated in the form of energy. Luft disease occurs as a result of structural modifications occurring in mitochondria, which results in uncoupling in mitochondrial respiration of skeletal muscle tissue. TCA (Tricarboxylic acid) cycle enzymes are found to be absent, thereby leading to the zig-zag configuration in the mitochondrial cristae causing the defect. The structural deformation leads to cristae being exposed to the fluid matrix. This then leads to the proton leakage from cristae, thereby affecting the electron transfer linked to phosphorylation that causes abnormality in the synthesis and respiration. Now, the procedure follows oxidation, but it occurs without the synthesis of ATP. Due to the insufficient production of ATP, muscles lack ATP, the heart beats at a higher rate, and it is encompassed by further having a higher metabolic rate when compared to a fit individual. Due to the high rate of metabolism, the food eaten is directly converted into heat without the production of energy, which should have been done otherwise.
The general defects in the mitochondrial system mainly arise from two mechanisms, in the early cases, it can be the defect that is caused due to a blockage in the ATP synthesis procedure or the electron flow that in the future is a result of lactic acidosis. The disorder is also caused due to a second reason that is luft syndrome that involves uncoupling the electron flow from the synthesis of ATP.
Various symptoms of the syndrome include tachycardia, severe hypermetabolism, heat intolerance, constant perspiration, polyphagia, polydipsia accompanied by polyuria, and resting tachycardia.
The general body temperature is increased overall and there is a decrease in the weight of an individual. BMR (Basal metabolic rate) is found to increase, which is marked by the uncoupling of oxidative photophosphorylation. This further explains the decrease in weight.
In the case of luft, there is a low ATP production, which makes the body lose extra energy, and hence even after a good diet, it is that the body is not able to put on weight. The treatment for the disease is not yet found.
The current treatments that are incorporated involve treating it as per the symptoms shown. Vitamin therapy is generally recommended, which involves a diet full of vitamins C, K, and E along with various coenzymes such as Q10 and having a high caloric diet. Individuals having Luft syndrome are advised to stay protected from heat.
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