scholarly journals 406 ACTH INSENSITIVITY: A NEW RECEPTOR DEFECT DETECTED BY THEOPHYLLINE STIMULATION

1981 ◽  
Vol 15 ◽  
pp. 507-507
Author(s):  
Mitchell E Geffner ◽  
Barbara M Lippe ◽  
Solomon A Kaplan
Keyword(s):  
Acth Insensitivity

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

2005 ◽  
Vol 16 (10) ◽  
pp. 451-457 ◽  
Author(s):  
Adrian J.L. Clark ◽  
Louise A. Metherell ◽  
Michael E. Cheetham ◽  
Angela Huebner
Keyword(s):  
Acth Insensitivity

scholarly journals Loss of the C Terminus of Melanocortin Receptor 2 (MC2R) Results in Impaired Cell Surface Expression and ACTH Insensitivity

Endocrinology ◽  
2010 ◽  
Vol 151 (12) ◽  
pp. 5971-5971
Author(s):  
Andrea Hirsch ◽  
Eirini Meimaridou ◽  
Monica Fernandez-Cancio ◽  
Amit V. Pandey ◽  
María Clemente ◽  
...  
Keyword(s):  
Cell Surface ◽  
Severe Hypoglycemia ◽  
Surface Expression ◽  
Melanocortin Receptor ◽  
Cell Surface Expression ◽  
Wild Type ◽  
C Terminus ◽  
Exact Function ◽  
Acth Insensitivity ◽  
Glucocorticoid Deficiency

Objective: Mutations in melanocortin receptor 2 (MC2R) and its related melanocortin receptor accessory protein (MRAP) cause familial glucocorticoid deficiency. We identified a novel MC2R mutation, K289fs. This unique mutation in the C terminus of MC2R is located in the intracellular part of the protein for which the exact function is unknown. Setting: A 6-wk-old boy presented with severe hypoglycemia, unmeasurable cortisol, and grossly elevated ACTH but normal electrolytes. Genetic analysis revealed homozygote K289fs mutation in MC2R. His parents and siblings were heterozygous but phenotypically normal. Intervention and Results: The role of the C terminus of MC2R was studied in two cell systems. Because the K289fs mutant changes the last eight amino acids of the protein and leads to protein elongation, wild-type MC2R and C-terminally mutated constructs were tested for activity to respond to ACTH in an OS3 cell-based reporter assay. Wild-type and alanine-substituted constructs responded normally to ACTH. By contrast K289fs and M290X had a total loss of activity. Cell surface assays and confocal localization studies revealed that K289fs and M290X receptors were not found at the cell surface, indicating that their transport from the endoplasmic reticulum to the cell membrane is disrupted. Interestingly, coimmunoprecipitation experiments showed no alteration in the interaction of mutant MC2R with MRAP, suggesting that interaction between these two proteins does not guarantee normal localization. Conclusions: Loss of the C terminus of MC2R impairs cell surface expression and ACTH sensitivity but does not disrupt interaction of MC2R with MRAP. These findings highlight the extreme sensitivity of MC2R to structural disruption.

Achalasia-alacrima-ACTH insensitivity syndrome (triple a syndrome)

2003 ◽  
Vol 70 (4) ◽  
pp. 343-345 ◽  
Author(s):  
Mamta Vaidya ◽  
Ashish Kelkar ◽  
Preeti Shanbag ◽  
Manisha Juvekar
Keyword(s):  
Triple A Syndrome ◽  
Acth Insensitivity

The syndrome of achalasia of the esophagus, ACTH insensitivity and alacrima

1986 ◽  
Vol 16 (4) ◽  
pp. 328-329 ◽  
Author(s):  
M. M. Ambrosino ◽  
N. B. Genieser ◽  
B. S. Bangaru ◽  
C. Sklar ◽  
M. H. Becker
Keyword(s):  
Acth Insensitivity

Genetics of ACTH insensitivity syndromes

2005 ◽  
Vol 66 (3) ◽  
pp. 247-249 ◽  
Author(s):  
J.L.A. Clark ◽  
L.A. Metherell ◽  
D. Naville ◽  
M. Begeot ◽  
A. Huebner
Keyword(s):  
Acth Insensitivity

scholarly journals Siblings with ACTH Insensitivity Due to Lack of ACTH Binding to the Receptor.

1995 ◽  
Vol 42 (2) ◽  
pp. 171-177 ◽  
Author(s):  
YUKIYO YAMAMOTO ◽  
YASUSADA KAWADA ◽  
MASANORI NODA ◽  
MINORU YAMAGISHI ◽  
OSAMU ISHIDA ◽  
...  
Keyword(s):  
Acth Insensitivity
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