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STUDIES ON SOME BIOCHEMICAL CHANGES ASSOCIATED WITH DUCHENNE MUSCULAR DYSTROPHY

Ansari, Naeema (1984) STUDIES ON SOME BIOCHEMICAL CHANGES ASSOCIATED WITH DUCHENNE MUSCULAR DYSTROPHY. PhD thesis, University of Karachi, Karachi.

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Abstract

Urinary excretion pattern of amino acids, lipids and myoglobin in the patients of Duchenne muscular dystrophy was evaluated. Significantly increased excretion of only fex amino acids was found in the urine of Duchenne patients. No generalized hyperaminoaciduria was observed. The level of amino acids in the plasma was also estimated in order to svaluate the type of aminoaciduria. The normal or reduced levels in the plasma of those amino acids which were excreted in significantly increased amounts by these Duchenne patients suggested the presence of an aminoaciduria, due to disturbance in the renal re-absorptive mechanism of these amino acids. The most striking observation was the excretion of an amino derivative, phosphoethanolamine exclusively by the Duchenne patients, which could not be detected either in genetic carriers of Duchenne dystrophy or in the patients of Becker’s, limb girdle, distal and autosomal types of mucular dystrophies Myfibrillar protein catabolic rate was also calculated in the patients of Duchenne dystrophy. The percentage of myofibrillar protein catabolised per day in Duchenne patients, was found 3 times greater than controls Generalized hyperlipiduria was observed in patients with Duchenne, Becker’s, limb girdle and autosomal recessive types of muscular dystrophies. Hyperlipaemia was not exhibited by Duchenne patients, although the levels of phospholipids and non-esterified fatty acids were found mildly elevated in the sera of these patients Contrary to this the levels of cholesterol, phospholipids, triglaycerides and non-esterified fatty acids were found significantly elevated in the urine of Duchenne patients. The most striking elevation was observed in the calculated other lipids fraction of both urine and serum specimens of Duchenne patients. A definite influence of dietary fat on the urinary and serum levels of lipids in patients of Duchenne dystrophy as well as controls was established. It was observed that restriction of fat in the diet of both Duchenne and control subjects decreased the excretion of fat in their urine by about 50% and 28% respectively Myoglobin in the urine was detected by a simple and sensitive spectrophotometric screening method in patients of Duchenne dystrophy. Myoglobinuria was found in about 50% of Duchenne patients studied. An attempt was also made to establish a relationship between myoglobinuria and serum creatine phosphokinase activity (CPK) with the clinical stage of the disease. A direct correlation was found between the myoglobinuria and serum CPK activity in both ambulatory and non-ambulatory patients. Similarily, a good inverse correlation was observed between serum CPK activity and the age of the patients, while myoglobinuria seems to be more closely related with the rate of progression of the disease, independent of the age Duchenne erythrocytes exhibited significantly increased fragility at concentrations of sodium chloride from 6.5g/1 to 4.5g/1. A significant difference was found in the initial lysis concentration and 50% lysis concentration (Median Corpuscular Fragility) of Duchenne and control erythrocytes. Duchenne erythrocytes lysed more readily than control erythrocytes thus indicating increased susceptibility of Duchenne erythrocytes to salt stress The results are discussed in relation to the pathogenesis of the disease

Item Type:Thesis (PhD)
Uncontrolled Keywords:duchenne muscular dystrophy, amino acids, lipids, myoglobin, erythrocytes
Subjects:Biological & Medical Sciences (c) > Medical Sciences (c2) > Human physiology(c2.3)
ID Code:1290
Deposited By:Mr. Muhammad Asif
Deposited On:27 Jan 2007
Last Modified:04 Oct 2007 21:05

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