Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The acceptance of a syndrome as a distinct nosological entity depends upon our ability to demonstrate that it consistent genetic, pathological and biochemical abnormalities. During the past two decades the application of enzyme histochemistry and electronmicroscopy to the study of biopsy muscle from patients from a variety of ill-defined neuromuscular disorders has enabled us to classify them with much greater precision. This approach, together with increasingly sophisticated electrophysiological techniques, has lead to a much clearer separation of neurogenic and primarily myopathic disorders with a consequent shrinkage in the category of pure muscular dystrophy. Perhaps the most useful application of morphological techniques alone has been in the field of congenital and metabolic myopathies, the histochemical and ultrastructural abnormalities in some cases providing valuable clues to the pathogenesis or even the aetiology of the underlying disease process. This applies particularly to the various glycogen storage diseases affecting skeletal muscle, disorders in which there appear to be structural and functional abnormalities of muscle mitochondria or in which excessive amounts of lipid are stored in muscle fibres. In this communication the histochemical and ultrastructural characteristics of these diseases will be detailed, their possible significance discussed and the relative non-specificity of some of these morphological abnormalities will be noted. A comment will be made on the frequency with which simple Type II fibre atrophy (as demonstrated by the myofibrillar ATPase preparation) may be accompanied by gross and bizarre ultrastructural abnormalities, e.g. in the myopathy accompanying chronic renal failure. Such inconsistencies underline the fact that it is not always possible to demonstrate a close correlation between histochemical and ultrastructural abnormalities in muscle disease. However, it should be emphasized that the combined approach is essential to the rational morphological study of these disorders.
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PMID:Correlations between histochemical and ultrastructural studies of diseased muscle. 123 67

Proinsulin, insulin and C-peptide levels were investigated in chronic renal, hepatic and muscular disorders. The proinsulin levels in human plasma were determined by radioimmunoassay using insulin-degrading enzyme (IDE). The fasting levels of proinsulin in 29 patients with chronic renal failure (0.95 +/- 0.05) were significantly higher than those in 10 patients with liver cirrhosis (0.46 +/- 0.04), six with muscular dystrophy (0.37 +/- 0.02) and 52 normal subjects (0.24 +/- 0.02 ng/ml, mean +/- S.E.). The fasting levels of insulin and C-peptide in chronic renal failure were also the highest among these groups. The insulin levels in liver cirrhosis and muscular dystrophy were significantly greater than those in normal subjects and increased molar ratios of proinsulin to total insulin immunoreactivity in chronic renal failure were observed. These results suggest that the kidney, liver and muscle are related to circulating insulin levels and that the kidney plays a particularly important role in circulating proinsulin levels. It can be concluded that increases in these peptides are due to a hypersecretion of B-cells, a decreased degradation or excretion.
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PMID:Plasma levels of proinsulin, insulin and C-peptide in chronic renal, hepatic and muscular disorders. 637 42

The LMNA gene contains 12 exons and encodes lamins A and C by alternative splicing within exon 10. While mutations in lamin A specific residues cause several diseases including lipodystrophy, progeria, muscular dystrophy, neuropathy, and cardiomyopathy, only three families with mutations in lamin C-specific residues are reported with cardiomyopathy, neuropathy, and muscular dystrophy so far. We now report two brothers with juvenile-onset generalized lipodystrophy due to a lamin C-specific mutation. The proband, a 23-year-old Caucasian male was reported to have generalized lipodystrophy at 3 weeks of age, developed diabetes, hypertriglyceridemia, hypertension and liver problems and died with complications of cirrhosis, and kidney failure. His younger brother, a 37-year-old Caucasian male developed generalized lipodystrophy around 2 years of age and was diagnosed with diabetes, hypertriglyceridemia, fatty liver, and hypertension at 36 years of age. Their father also died of end stage renal disease at age 52 years. Exome sequencing of the proband revealed an extremely rare missense heterozygous variant c.1711_1712CG>TC; p.(Arg571Ser) in LMNA which was confirmed by Sanger sequencing in both the patients. Interestingly, the mutation had no effect on mRNA splicing or relative expression of lamin A or C mRNA and protein in the lymphoblasts. Our observations suggest that mutant lamin C disrupts its interaction with other cellular proteins resulting in generalized lipodystrophy due to defective development and maintenance of adipose tissue.
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PMID:Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C. 2868 29