Abnormal Insulin Secretion in Myotonic Dystrophy

Huff, Thomas A.; Horton, Edward S.

doi:10.1056/nejm196710192771602

Cited by 84 publications

(22 citation statements)

References 16 publications

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“…The possibility that a structural difference exists in the circulating and pancreatic insulin moiety of diabetic subjects is an attractive and logical hypothesis which has begun to invite the attention of a few investigators [30,41,12,37]. The present review examines the evidence obtained in our laboratory.…”

Section: Exposg Des Arguments En Faveur D'une Insuline Anormale" Damentioning

confidence: 96%

The case for an ?abnormal? insulin in diabetes mellitus

1968

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Summary. Understanding of diabetes in molecular terms has advanced very little. The possibility that a structural difference exists in the circulating and pancreatic insulin moiety of diabetics is supported by three lines of evidence obtained in the authors' laboratory. --Immunologically purified circulating insulin from diabetic subjects untreated with insulin was noted to be relatively resistant to degradation by a crude muscle insulinase preparation. The pancreatic insulin of five diabetic pancreases was found to have a decreased biological activity in its ability to enhance glycogen synthesis in vivo and in its capacity to stimulate RNA turnover in tissue culture. --The nature of this "abnormal insulin" and its hypothetical role in the physiopathology of diabetes are discussed in the light of the need for a specific definition of the precise molecular change. Exposg des arguments en faveur d'une ,,insuline anormale" dans le diab~teRdsumg. Pea de progr~s conduisant ~ la compr6hen-sion du diab~te en termes mol~culaires ont gt4 r6alisgs. La possibilit6 qu'il existe une modification dans la structure de l'insuline des diab~tiques, aussi bien circulante que pancr6atique, s'appuie sur trois arguments expgrimentaux obtenus au laboratoire des auteurs. --La purification imm,mochimique de l'insuline circulante de diabgtiques jeunes non tralt6s par

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Section: Exposg Des Arguments En Faveur D'une Insuline Anormale" Damentioning

confidence: 96%

The case for an ?abnormal? insulin in diabetes mellitus

1968

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“…Objective evidence of the disease includes muscle wasting and weakness, myotonia, personality changes (or, in children, mental subnormality), lens opacities, electromyographic and electrocardiographic changes, skull radiographic changes, high serum levels of insulin (Huff, Horton, and Lebovitz, 1967), and low serum levels of immunoglobulin G (IgG) (Zinneman and Rotstein, 1956;Wochner, Drews, Strober, and Waldmann, 1966). For other references see Klein (1958) and Caughey and Myrianthopoulos (1963).…”

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confidence: 99%

Early recognition of heterozygotes for the gene for dystrophia myotonica

Bundey

Carter

Soothill

1970

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY A study has been performed on 124 first degree relatives of 38 index patients with dystrophia myotonica in order to assess means of detecting heterozygotes before neurological complaints. Some or all of the following tests have been performed on the relatives:clinical examination, electromyography, slit-lamp examination, radiography of the skull, electrocardiography, serum insulin, and serum immunoglobulin levels. There is evidence that abnormalities in symptomless heterozygotes may be detected by slit-lamp examination, electromyography, and immunoglobulin concentration, and this is probably the order of usefulness of the test in early recognition of the disease. In this study 13 previously undetected heterozygotes have been identified: six as a result of neurological examination, four by both electromyography and slit-lamp examination, and three by slit-lamp examination alone. Abnormalities detected by these tests appear to be independently manifest, so that they will probably be more useful in combination than singly. The family data give a maximum estimate for incidence of mutations among index cases of one quarter, lower than previously suggested. The estimation of immunoglobulins in 45 patients showed significant deficiency, as compared with controls, not only of IgG but also of IgM, and there was an insignificant trend for IgA to be low too. This suggests that the abnormally rapid catabolism of immunoglobulin, previously reported, is not specific for IgG.

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“…The size of expansion correlates to a reasonable degree with the clinical symptoms not only within a given family but also within each internal organ of one body (9)(10)(11)(12)(13). Disturbed glucose tolerance is a well-knowncomplication of the disease showing elevated plasma insulin levels and a normal response to exogenous insulin (2,4). But hypoglycemia after glucose loading or meals has not been reported in association with MyD.…”

Section: Discussionmentioning

confidence: 99%

Myotonic Dystrophy Associated with Insulinoma.

et al. 1999

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Wedescribe a 51-year-old man with myotonic dystrophy (MyD) associated with insulinoma. In addition to the typical symptomsof MyD,he showedhypoglycemicattacks after meals. The radiological examination and selective blood sampling revealed an insulinoma in the head of the pancreas. The tumor was resected and histopathologically diagnosed as an insulinoma. In Southern blot analysis, CTGrepeat of the myotonin protein kinase gene in the insulinoma showed the longest expansion, followed by normal tissue of the pancreas, muscle and white blood cells. Therefore, microsatellite instability was the most prominent in the tumor cells. (Internal Medicine 38: 504-506, 1999)

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Abnormal Insulin Secretion in Myotonic Dystrophy

Cited by 84 publications

References 16 publications

The case for an ?abnormal? insulin in diabetes mellitus

The case for an ?abnormal? insulin in diabetes mellitus

Early recognition of heterozygotes for the gene for dystrophia myotonica

Myotonic Dystrophy Associated with Insulinoma.

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