scholarly journals Du nouveau dans la génétique des formes monogéniques d’obésité et son impact pour mieux en comprendre la physiopathologie

2020 ◽  
Vol 36 (10) ◽  
pp. 859-865
Author(s):  
Morgane Baron ◽  
Philippe Froguel ◽  
Amélie Bonnefond
Keyword(s):  
Accessory Protein ◽  
Receptor Accessory Protein

L’obésité est une maladie complexe multifactorielle. Chez environ 5 % des individus obèses, il existe des formes monogéniques d’obésité pour laquelle une seule mutation est suffisante pour entraîner la maladie. Jusqu’à présent, les gènes mutés identifiés dans ces formes monogéniques sont impliqués dans la voie leptine/mélanocortine, principalement active au niveau de l’hypothalamus et régissant la satiété. Récemment, notre laboratoire a décrit une nouvelle forme monogénique d’obésité. Elle est due à une déficience du gène MRAP2 (melanocortin-2 receptor accessory protein 2) pour laquelle, contrairement aux formes précédemment décrites, on retrouve chez les porteurs une hyperglycémie et une hypertension, suggérant que MRAP2 joue un rôle biologique général dans les tissus métaboliques en plus de son rôle dans l’hypothalamus.

Pharmacological effect of human melanocortin-2 receptor accessory protein 2 variants on hypothalamic melanocortin receptors

Endocrine ◽  
2018 ◽  
Vol 61 (1) ◽  
pp. 94-104 ◽  
Author(s):  
Jinye Liang ◽  
Lei Li ◽  
Xuanxuan Jin ◽  
Bingxin Xu ◽  
Linyu Pi ◽  
...  
Keyword(s):  
Pharmacological Effect ◽  
Melanocortin Receptors ◽  
Accessory Protein ◽  
Receptor Accessory Protein

scholarly journals Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†

2020 ◽  
Vol 102 (6) ◽  
pp. 1234-1247 ◽  
Author(s):  
Darius J Devlin ◽  
Smriti Agrawal Zaneveld ◽  
Kaori Nozawa ◽  
Xiao Han ◽  
Abigail R Moye ◽  
...  
Keyword(s):  
Zona Pellucida ◽  
Protein Trafficking ◽  
Stage Iv ◽  
Immunofluorescent Staining ◽  
Accessory Protein ◽  
Interacting Protein ◽  
Vitro Fertilization ◽  
Reproductive Processes ◽  
Receptor Accessory Protein

Abstract Receptor accessory protein 6 (REEP6) is a member of the REEP/Ypt-interacting protein family that we recently identified as essential for normal endoplasmic reticulum homeostasis and protein trafficking in the retina of mice and humans. Interestingly, in addition to the loss of REEP6 in our knockout (KO) mouse model recapitulating the retinal degeneration of humans with REEP6 mutations causing retinitis pigmentosa (RP), we also found that male mice are sterile. Herein, we characterize the infertility caused by loss of Reep6. Expression of both Reep6 mRNA transcripts is present in the testis; however, isoform 1 becomes overexpressed during spermiogenesis. In vitro fertilization assays reveal that Reep6 KO spermatozoa are able to bind the zona pellucida but are only able to fertilize oocytes lacking the zona pellucida. Although spermatogenesis appears normal in KO mice, cauda epididymal spermatozoa have severe motility defects and variable morphological abnormalities, including bent or absent tails. Immunofluorescent staining reveals that REEP6 expression first appears in stage IV tubules within step 15 spermatids, and REEP6 localizes to the connecting piece, midpiece, and annulus of mature spermatozoa. These data reveal an important role for REEP6 in sperm motility and morphology and is the first reported function for a REEP protein in reproductive processes. Additionally, this work identifies a new gene potentially responsible for human infertility and has implications for patients with RP harboring mutations in REEP6.

scholarly journals Melanocortin Receptor Accessory Protein 2-Induced Adrenocorticotropic Hormone Response of Human Melanocortin 4 Receptor

2018 ◽  
Vol 3 (2) ◽  
pp. 314-323 ◽  
Author(s):  
Lucia Soletto ◽  
Sergio Hernández-Balfagó ◽  
Ana Rocha ◽  
Patrick Scheerer ◽  
Gunnar Kleinau ◽  
...  
Keyword(s):  
Adrenocorticotropic Hormone ◽  
Melanocortin Receptor ◽  
Accessory Protein ◽  
Hormone Response ◽  
Melanocortin 4 Receptor ◽  
Receptor Accessory Protein

scholarly journals Regulation of Lipolytic Response and Energy Balance by Melanocortin 2 Receptor Accessory Protein (MRAP) in Adipocytes

Diabetes ◽  
2017 ◽  
Vol 67 (2) ◽  
pp. 222-234 ◽  
Author(s):  
Xiaodong Zhang ◽  
Alicia M. Saarinen ◽  
Latoya E. Campbell ◽  
Elena A. De Filippis ◽  
Jun Liu
Keyword(s):  
Energy Balance ◽  
Accessory Protein ◽  
Receptor Accessory Protein

scholarly journals IL-1 receptor accessory protein is essential for IL-33-induced activation of T lymphocytes and mast cells

2007 ◽  
Vol 104 (47) ◽  
pp. 18660-18665 ◽  
Author(s):  
S. Ali ◽  
M. Huber ◽  
C. Kollewe ◽  
S. C. Bischoff ◽  
W. Falk ◽  
...  
Keyword(s):  
Mast Cells ◽  
T Lymphocytes ◽  
Accessory Protein ◽  
Receptor Accessory Protein

Modulation of Arthritis through overexpression of soluble inter-leukin-1 receptor accessory protein (sIL-1RAcP): a novel inhibitor of interleukin-1, distinct from IL-1Ra

2003 ◽  
Vol 52 (S2) ◽  
pp. S197-S199 ◽  
Author(s):  
R. L. Smeets ◽  
F. A. J. van de Loo ◽  
L. A. B. Joosten ◽  
O. J. Arntz ◽  
M. B. Bennink ◽  
...  
Keyword(s):  
Interleukin 1 ◽  
Accessory Protein ◽  
Receptor Accessory Protein
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