scholarly journals Defects in insulin binding and receptor kinase in cells from a woman with type A insulin resistance and from her family

Diabetologia ◽  
1991 ◽  
Vol 34 (2) ◽  
pp. 86-92 ◽  
Author(s):  
Y. Suzuki ◽  
N. Hashimoto ◽  
F. Shimada ◽  
M. Taira ◽  
M. Mimura ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Type A ◽  
Insulin Binding ◽  
Receptor Kinase ◽  
Her Family ◽  
Type A Insulin Resistance ◽  
In Cells

In-frame exon 2 deletion in insulin receptor RNA in a family with extreme insulin resistance in association with defective insulin binding: a case report

1996 ◽  
Vol 135 (3) ◽  
pp. 357-363 ◽  
Author(s):  
Wolfgang Moritz ◽  
Marianne Böni-Schnetzler ◽  
Wayne Stevens ◽  
E Rudolf Froesch ◽  
James R Levy
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Receptor Binding ◽  
Type A ◽  
Insulin Binding ◽  
Exon 2 ◽  
Receptor Mrna ◽  
Mrna Transcripts ◽  
Extreme Insulin Resistance ◽  
Type A Insulin Resistance

Moritz W, Böni-Schnetzler M, Stevens W, Froesch ER, Levy JR. In-frame exon 2 deletion in insulin receptor RNA in a family with extreme insulin resistance in association with defective insulin binding. Eur J Endocrinol 1996;135:357–63. ISSN 0804–4643 The phenotype and allelic expression of the insulin receptor gene is presented in a family with a patient with type A insulin resistance. Compared to controls, insulin receptor binding in transformed lymphocytes was 100%, 33% and 13% in the father, mother and proband, respectively. Reduced insulin receptor binding co-segregated with altered insulin receptor mRNA expression; the mother and daughter expressed eight insulin receptor mRNA species, including a set of four normal sized and a set of four shorter mRNA transcripts. In the proband the levels of the normal sized mRNA transcripts were suppressed relative to the shorter transcripts. Reverse polymerase chain reaction (PCR) revealed that the shorter transcripts contained an in-frame deletion of exon 2. Sequencing of the entire insulin receptor coding region revealed a paternally inherited A to T substitution in nucleotide 3205, converting isoleucine 996 to phenylalanine. which does not co-segregate with reduced binding. Therefore, we hypothesize that two findings are necessary for the presentation of type A insulin resistance in this patient: an in-frame deletion of the insulin receptor exon 2 that codes for amino acids crucial for insulin binding; and an inhibition of expression of the paternal insulin receptor allele. Marianne Böni-Schnetzler, Division of Endocrinology and Metabolism, Department of Internal Medicine, University Hospital, 8091 Zurich, Switzerland

Type A Insulin Resistance Syndrome due to an INSR mutation Presenting with diabetes mellitus evolving to hyperandrogenism and PCOS

2018 ◽  
Author(s):  
Arameh Aghababaie ◽  
Martha Ford-Adams ◽  
Charles R Buchanan ◽  
Ved Arya ◽  
Andrew Hattersley ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Resistance ◽  
Insulin Resistance Syndrome ◽  
Type A ◽  
Type A Insulin Resistance

scholarly journals Lipid-induced insulin resistance in cultured hepatoma cells is associated with a decreased insulin receptor tyrosine kinase activity.

1991 ◽  
Vol 2 (1) ◽  
pp. 65-72 ◽  
Author(s):  
P Hubert ◽  
C Bruneau-Wack ◽  
G Cremel ◽  
Y Le Marchand-Brustel ◽  
C Staedel
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Kinase Activity ◽  
Insulin Binding ◽  
Hepatoma Cells ◽  
Receptor Kinase ◽  
Insulin Receptor Tyrosine Kinase ◽  
Normal Medium ◽  
Insulin Receptor Kinase ◽  
Insulin Receptor Kinase Activity

We have shown previously that experimental modifications of the cellular lipid composition of an insulin-sensitive rat hepatoma cell line (Zajdela Hepatoma Culture, ZHC) affect both binding and biological actions of insulin. Discrepancies between insulin binding and actions implied a postbinding defect, responsible for the observed insulin resistance in lipid-treated cells. To elucidate the mechanism for this defect, we have studied insulin binding and insulin receptor kinase activity in partially purified receptor preparations from ZHC cells grown either in normal medium or in medium supplemented with linoleic acid or 25-hydroxycholesterol. Insulin binding to the lectin-purified insulin receptor showed only a small alteration in receptor affinity for the preparations from lipid-treated cells. Insulin-stimulated autophosphorylation of the beta-subunit of the insulin receptor, as well as insulin-induced phosphorylation of the artificial substrate poly(Glu,Tyr)4:1, was significantly decreased in the preparations from lipid-modified cells. Although differences in basal levels were observed, the magnitude of the insulin-stimulated kinase activity was significantly decreased in receptor preparations from lipid-treated cells. These findings indicate that experimental modification of the lipids of cultured hepatoma cells can produce in insulin receptor kinase activity changes that are proportional to the reduced insulin action observed in these cells.

A glycine-1008 to valine mutation in the insulin receptor in a woman with type A insulin resistance.

1993 ◽  
Vol 77 (1) ◽  
pp. 169-172
Author(s):  
O Nozaki ◽  
Y Suzuki ◽  
F Shimada ◽  
N Hashimoto ◽  
M Taira ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Type A ◽  
Type A Insulin Resistance

scholarly journals Type A-Insulin Resistance with Lipopexia on Extremities: A Case Report.

1992 ◽  
Vol 39 (4) ◽  
pp. 347-353 ◽  
Author(s):  
NAOKI NAKASHIMA ◽  
TOMOYA MIYAMURA ◽  
TSUKASA YAMASHITA ◽  
TERUAKI YAMAUCHI ◽  
FUMIO UMEDA ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Case Report ◽  
Type A ◽  
Type A Insulin Resistance
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