scholarly journals Variants of the Adiponectin and Adiponectin Receptor-1 Genes and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients

2012 ◽  
Vol 97 (1) ◽  
pp. E129-E135 ◽  
Author(s):  
Eun Seok Kang ◽  
Faidon Magkos ◽  
Beom Seok Kim ◽  
Rihong Zhai ◽  
Li Su ◽  
...  
PLoS ONE ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. e0190863 ◽  
Author(s):  
Jungmi Choi ◽  
Hatasu Kobayashi ◽  
Hiroko Okuda ◽  
Kouji H. Harada ◽  
Midori Takeda ◽  
...  

2021 ◽  
Vol 7 (2) ◽  
pp. eabb3991
Author(s):  
Perundurai S. Dhandapany ◽  
Soojeong Kang ◽  
Deepak K. Kashyap ◽  
Raksha Rajagopal ◽  
Nagalingam R. Sundaresan ◽  
...  

Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic heart muscle disease characterized by hypertrophy with preserved or increased ejection fraction in the absence of secondary causes. However, recent studies have demonstrated that a substantial proportion of individuals with HCM also have comorbid diabetes mellitus (~10%). Whether genetic variants may contribute a combined phenotype of HCM and diabetes mellitus is not known. Here, using next-generation sequencing methods, we identified novel and ultrarare variants in adiponectin receptor 1 (ADIPOR1) as risk factors for HCM. Biochemical studies showed that ADIPOR1 variants dysregulate glucose and lipid metabolism and cause cardiac hypertrophy through the p38/mammalian target of rapamycin and/or extracellular signal–regulated kinase pathways. A transgenic mouse model expressing an ADIPOR1 variant displayed cardiomyopathy that recapitulated the cellular findings, and these features were rescued by rapamycin. Our results provide the first evidence that ADIPOR1 variants can cause HCM and provide new insights into ADIPOR1 regulation.


2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Dennis S. Rice ◽  
Jorgelina M. Calandria ◽  
William C. Gordon ◽  
Bokkyoo Jun ◽  
Yongdong Zhou ◽  
...  

Abstract The identification of pathways necessary for photoreceptor and retinal pigment epithelium (RPE) function is critical to uncover therapies for blindness. Here we report the discovery of adiponectin receptor 1 (AdipoR1) as a regulator of these cells’ functions. Docosahexaenoic acid (DHA) is avidly retained in photoreceptors, while mechanisms controlling DHA uptake and retention are unknown. Thus, we demonstrate that AdipoR1 ablation results in DHA reduction. In situ hybridization reveals photoreceptor and RPE cell AdipoR1 expression, blunted in AdipoR1−/− mice. We also find decreased photoreceptor-specific phosphatidylcholine containing very long-chain polyunsaturated fatty acids and severely attenuated electroretinograms. These changes precede progressive photoreceptor degeneration in AdipoR1−/− mice. RPE-rich eyecup cultures from AdipoR1−/− reveal impaired DHA uptake. AdipoR1 overexpression in RPE cells enhances DHA uptake, whereas AdipoR1 silencing has the opposite effect. These results establish AdipoR1 as a regulatory switch of DHA uptake, retention, conservation and elongation in photoreceptors and RPE, thus preserving photoreceptor cell integrity.


2010 ◽  
Vol 2 (1) ◽  
pp. 15 ◽  
Author(s):  
John Thundyil ◽  
Sung-Chun Tang ◽  
Eitan Okun ◽  
Kausik Shah ◽  
Vardan T Karamyan ◽  
...  

Diabetes ◽  
2005 ◽  
Vol 54 (7) ◽  
pp. 2245-2250 ◽  
Author(s):  
C. M. Damcott ◽  
S. H. Ott ◽  
T. I. Pollin ◽  
L. J. Reinhart ◽  
J. Wang ◽  
...  

PLoS ONE ◽  
2018 ◽  
Vol 13 (6) ◽  
pp. e0199256 ◽  
Author(s):  
Sunghwan Kim ◽  
Younho Lee ◽  
Jun Woo Kim ◽  
Young-Jin Son ◽  
Min Jung Ma ◽  
...  

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