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  • 1
    ISSN: 1432-0428
    Keywords: DNA inserts ; insulin gene ; Type 1 diabetes ; HLA antigens ; prevalence ; pedigree studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A polymorphic DNA sequence in the 5′-flanking region of the human insulin gene was studied in relation to Type 1 (insulin-dependent) diabetes. In 141 Caucasoid subjects analysed by Southern blot hybridisation techniques, two major DNA insertions were observed: a Class 1 allele or a Class 3 allele. The Class 2 allele was not observed in this group of subjects. Genotype frequencies in a control population (n = 88) were: homozygous 1/1, 42%; heterozygous 1/3, 50%; and homozygous 3/3, 8%. Corresponding genotype frequencies in 53 Type 1 diabetic patients were 79%, 21% and 0%, respectively (p〈0.0005 from χ2 test). This confirms prevalence data reported by Bell et al. [16]. There appeared to be no coinheritance with HLA-DR3/DR4 related antigens, nor with autoimmune features. Analysis of 17 Type 1 diabetic pedigrees including 34 diabetic and 69 non-diabetic subjects did not demonstrate genetic linkage of these DNA inserts with diabetes, using an autosomal recessive, single locus model of inheritance.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0428
    Keywords: Type 2 (non-insulin-dependent) diabetes mellitus ; genetics ; insulin receptor gene ; restriction fragment length polymorphism ; population association study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The insulin receptor has been proposed as a candidate gene for the inherited defect in Type 2 (non-insulin-dependent) diabetes mellitus and we therefore studied three restriction fragment length polymorphic sites, two revealed with the enzyme Sst1 and one by Rsa1, using two insulin receptor cDNA probes in 131 Caucasian Type 2 diabetic patients and 94 control subjects. The frequency of the six alleles studied did not differ significantly between the two groups. However, one allele, a 6.2 kilobase Rsa1 fragment (R+), was found more frequently in those diabetic subjects (n=48) with a positive family history of diabetes (R+frequency=0.48) compared to those diabetic subjects (n=63) with a negative family history (R+frequency=0.34, p〈 0.05). These results suggest that this polymorphism may be a linkage marker for the genetic defect in a subgroup of Type 2 diabetic patients with a positive family history.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0428
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-0428
    Keywords: Glucose tolerance ; plasma fatty acids ; plasma insulin ; release of fatty acids ; release of glycerol ; adipose tissue ; obesity ; diabetes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The release of fatty acids and glycerol from adipose tissue of obese diabetics and obese controls has been studied in relation to the fall in plasma fatty acids during a glucose tolerance test. Adipose tissue was taken at zero-time and lh after an oral glucose load (50g). Obese diabetics released more fatty acids from adipose tissue than obese controls (p 〈 0.001), whereas glycerol release was similar in the two groups. The percent reduction in release of fatty acids from adipose tissue of obese diabetics during a G. T. T. was significantly less than obese controls (p 〈 0.02), as was the percent fall in plasma fatty acids (p 〈 0.02), whereas the percent reduction in glycerol release from adipose tissue was similar in the two groups. In addition the percent fall in plasma fatty acids during a G.T.T. correlated with the percent reduction in release of fatty acids from adipose tissue (p〈0.05), but not with release of glycerol; and the increment in plasma insulin from zero-time to lh during a G.T.T. correlated with the percent reduction in fatty acid release from adipose tissue (p〈0.01). Finally, the plasma insulin at lh of a G.T.T. correlated inversely with the release of fatty acids from adipose tissue (p〈0.05), but not with the release of glycerol. The data is consistent with the view that the plasma fatty acids fall during a G.T.T. due to re-esterification of fatty acids rather than due to an antilipolytic action of insulin.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-0428
    Keywords: Insulin resistance ; enzyme regulation ; adipose tissue ; lipoprotein lipase ; hypertriglyceridaemia ; hyperglycaemia ; obesity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The activity of lipoprotein lipase (E.C.3.1.1.3.) has been measured in adipose tissue from insulin-independent diabetics with hypertriglyceridaemia, non-diabetics with hypertriglyceridaemia and control patients, all of whom were obese. Although all groups showed an increase of plasma insulin after oral glucose, both the diabetic and nondiabetic hypertriglyceridaemics had impaired activities of lipoprotein lipase in adipose tissue compared to the obese normals (p〈0.02, p〈0.03, respectively). A course of insulin therapy (20 u.o.d.) for one week increased the activity of lipoprotein lipase extracted from adipose tissue, lowered plasma triglycerides and improved triglyceride clearance from plasma in a group of diabetics with hypertriglyceridaemia (mean plasma triglyceride 8.7 mmol/l). Our results suggest that a feature in the development of insulin resistance in adult diabetics may be a failure of maintenance of key intracellular enzyme activities involved in lipid metabolism.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Diabetologia 12 (1976), S. 351-358 
    ISSN: 1432-0428
    Keywords: Alpha-receptor ; beta-receptor ; catecholamines ; prostaglandin ; insulin ; cyclic AMP ; lipolysis ; diabetes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The sensitivity of alpha- and beta-adrenergic receptors, and the antilipolytic actions of prostaglandin E1 or insulin on adipose tissue of obese diabetic and non-diabetic subjects have been studied. Accumulation of cyclic AMP in adipose tissue and release of glycerol in response to several catecholamines (adrenaline, noradrenaline and isoprenaline) in the presence or absence of an alpha-adrenergic blocker (phentolamine) have been used to assess catecholamine receptor sensitivity. No differences in beta-receptor activity were observed between diabetics and non-diabetics, either on glycerol release or accumulation of cyclic AMP; alpha-receptor activity was also similar, except for significantly less accumulation of cyclic AMP in diabetic tissue incubated with noradrenaline and phentolamine (p〈0.01). The antilipolytic action of prostaglandin E1 (at concentrations of 30 fM to 30 pM) on lipolysis (stimulated submaximally with isoprenaline, 10−7 M) was similar in diabetic and control groups. The antilipolytic action of insulin (from 10−10 to 10−6 M) on lipolysis was also similar between the groups. It is concluded that neither disorders of the catecholamine receptor nor of the antilipolytic actions of prostaglandin E1 or insulin are responsible for the abnormalities of fatty acid metabolism in adult diabetes.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Diabetologia 19 (1980), S. 86-86 
    ISSN: 1432-0428
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 106 (1982), S. 0 
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Two patients with extensive livedo reticularis have developed multiple severe neurological lesions over a 6-year period. The possible pathogenesis is discussed.The presence of livedo reticularis has been described in conjunction with many diseases (Rook, Wilkinson & Ebling, 1979). A rare association between this condition and neurological syndromes has also been reported (Sneddon, 1965; Quimby & Perry, 1980). We report two cases which add further support to this association.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have used a cDNA clone for human apolipoprotein CII (apo CII) to study the apo CII genes in two independent individuals with familial apo CII deficiency. With all the restriction enzymes so far used, gene fragments hybridising with apo CII cDNA are observed that are indistinguishable from normal samples. This demonstrates that in neither of these individuals is the defect due to a major deletion of DNA in or around the apo CII gene. We have used a common polymorphism of the apo CII gene detected with the enzyme TaqI to follow the inheritance of the gene in the families of these apo CII deficient individuals. The pattern of inheritance that we observe is consistent with the defect causing apo CII deficiency being in, or closely linked to the apo CII structural gene.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Cellular and molecular life sciences 35 (1979), S. 424-425 
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A fast simple method for assay of total blood lipids has been devised by precipitating blood proteins with methanol and extracting lipids into diethyl ether. The change in refractive index of the methanol-ether due to dissolved lipids is measured in a refractometer.
    Type of Medium: Electronic Resource
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