I= STUDIES ON SOME BIOCHEMICAL CHANGES ASSOCIATED WITH DUCHENNE MUSCULAR DYSTROPHY
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Title of Thesis
STUDIES ON SOME BIOCHEMICAL CHANGES ASSOCIATED WITH DUCHENNE MUSCULAR DYSTROPHY

Author(s)
Naeema Ansari
Institute/University/Department Details
University of Karachi/ Department of Physiology
Session
1984
Subject
Number of Pages
243
Keywords (Extracted from title, table of contents and abstract of thesis)
duchenne muscular dystrophy, amino acids, lipids, myoglobin, erythrocytes

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

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1968.89 KB
S. No. Chapter Title of the Chapters Page Size (KB)
1 0 Contents 0
54.17 KB
2 1 Muscular Dystrophy-A Preview Introduction 1
584.67 KB
  1.1 Muscular Dystrophy 1
  1.2 Muscular Performance In Dystrophic Subjects 5
  1.3 Morphological Changes In Dystrophic Muscle 9
  1.4 Biochemical Changes In Muscle 18
  1.5 Biochemical Changes In Body Fluids 31
  1.6 Non-Muscle Cells In Muscular Dystrophy 40
  1.7 Morphological Changes In Erythrocytes 43
  1.8 Biophysical Changes In Erythrocytes 44
  1.9 Biochemical Changes In Erythrocytes 47
  1.10 Carriers Of Duchenne Dystrophy 52
  1.11 Pathogenesis Of Muscular Dystrophy 55
3 2 Urinary Excretion Of Amino Acids In Duchenne Muscular Dystrophy 68
597.01 KB
  2.1 Introduction 68
  2.2 Materials And Methods 72
  2.3 Results 83
  2.4 Discussion 107
4 3 Urinary Excretion Of Lipids In Duchenne Muscular Dystrophy 124
433.86 KB
  3.1 Introduction 124
  3.2 Materials And Methods 132
  3.3 Results 143
  3.4 Discussion 170
5 4 Urinary Excretion Of Myoglobin In Duchenne Muscular Dystrophy 180
98.25 KB
  4.1 Introduction 180
  4.2 Materials And Methods 183
  4.3 Results 186
  4.4 Discussion 191
6 5 Osmotic Fragility Of Erythrocytes In Duchenne Muscular Dystrophy 193
110.65 KB
  5.1 Introduction 193
  5.2 Materials And Methods 197
  5.3 Results 200
  5.4 Discussion 204
7 6 General Comments 207
384.95 KB
  6.1 References 214