Calpain 10 and development of diabetes mellitus in cystic fibrosis

Derbel, S.; Doumaguet, Celine; Hubert, D.; Mosnier-Pudar, H.; Grabar, Sophie; Chelly, Jamel; Bienvenu, Thierry

doi:10.1016/j.jcf.2005.09.011

Cited by 28 publications

(22 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Among Chinese, variation in SNP43 is positively associated with IR (OR=1.41, 95%CI=1.13-1.76) (Jing et al, 2012). Epidemiological studies in Japan (Shima et al, 2003) and France (Derbel et al, 2006) similarly concluded that SNP19 is involved in the pathogenesis of IR. CAPN10 is also related to several types of cancer (pancreatic, laryngeal, and gastric), and it belongs to the calpain family which contains several oncogenes and tumor suppressor genes (Liu et al, 2004;Fong et al, 2010;Moreno-Luna et al, 2011).…”

Section: Discussionmentioning

confidence: 98%

Calpain-10 SNP43 and SNP19 Polymorphisms and Colorectal Cancer: a Matched Case-control Study

Yuan²,

Luan³

et al. 2013

Asian Pacific Journal of Cancer Prevention

View full text Add to dashboard Cite

Objective: Insulin resistance (IR) is an established risk factor for colorectal cancer (CRC). Given that CRC and IR physiologically overlap and the calpain-10 gene (CAPN10) is a candidate for IR, we explored the association between CAPN10 and CRC risk. Methods: Blood samples of 400 case-control pairs were genotyped, and the lifestyle and dietary habits of these pairs were recorded and collected. Unconditional logistic regression (LR) was used to assess the effects of CAPN10 SNP43 and SNP19, and environmental factors. Both generalized multifactor dimensionality reduction (GMDR) and the classification and regression tree (CART) were used to test gene-environment interactions for CRC risk. Results: The GA+AA genotype of SNP43 and the Del/Ins+Ins/Ins genotype of SNP19 were marginally related to CRC risk (GA+AA: OR = 1.35, 95% CI = 0.92-1.99; Del/Ins+Ins/ Ins: OR = 1.31, 95% CI = 0.84-2.04). Notably, a high-order interaction was consistently identified by GMDR and CART analyses. In GMDR, the four-factor interaction model of SNP43, SNP19, red meat consumption, and smoked meat consumption was the best model, with a maximum cross-validation consistency of 10/10 and testing balance accuracy of 0.61 (P < 0.01). In LR, subjects with high red and smoked meat consumption and two risk genotypes had a 6.17-fold CRC risk (95% CI = 2.44-15.6) relative to that of subjects with low red and smoked meat consumption and null risk genotypes. In CART, individuals with high smoked and red meat consumption, SNP19 Del/Ins+Ins/Ins, and SNP43 GA+AA had higher CRC risk (OR = 4.56, 95%CI = 1.94-10.75) than those with low smoked and red meat consumption. Conclusions: Though the single loci of CAPN10 SNP43 and SNP19 are not enough to significantly increase the CRC susceptibility, the combination of SNP43, SNP19, red meat consumption, and smoked meat consumption is associated with elevated risk.

show abstract

Section: Discussionmentioning

confidence: 98%

Calpain-10 SNP43 and SNP19 Polymorphisms and Colorectal Cancer: a Matched Case-control Study

Yuan²,

Luan³

et al. 2013

Asian Pacific Journal of Cancer Prevention

View full text Add to dashboard Cite

show abstract

“…Periferal insülin duyarlılıklarının normal olması ve geride kalan pankreasın β hücrelerinin normal sekretuvar fonksiyonlarını koruması nedeni ile; önemli derecede β hücre kütlesi azalmış olan KF'li hastalarında sadece hafif glukoz tolerans bozuklukları olduğu izlenebilmektedir (6). Toplumda T2DM gelişmesine yol açan bazı genetik varyasyonların ve gen polimorfizmlerin KFİDM gelişmesinde de rol oynayabileceği ve hastalığın daha erken yaşlarda görülmesine yol açabileceği belirtilmiştir (15,16). KFİDM gelişmesinde inkretin hormonlarının rolünün ne olduğu konusunda ise daha fazla çalışmaya ihtiyaç vardır (17,18).…”

Section: Discussionunclassified

Cystic Fibrosis Related Diabetes: A Case Report

...

2012

Tjem

View full text Add to dashboard Cite

ÖzetKistik fibrozis ilişkili diyabetes mellitus (KFİDM), kistik fibrozisli (KF) hastalarda sağ kalımın artması sonucunda artık daha sık rastlanan bir durumdur. KFİDM pulmoner fonksiyonlarda neden olduğu komplikasyonlardan dolayı, KF hastalarında mortaliteyi önemli derecede artırmaktadır. Doğru tedavinin uygulanması için hastalığın patogenezinin ve seyrinin iyi bilinmesi gerekmektedir. Otuz bir yaşında KFİDM tanısı alan hasta, uygulanan kalorisi kısıtlanmış diyet ve bazal insulin tedavileri altında kilo kaybının olması ve hipoglisemilerinin olması nedeni ile Endokrinoloji ve Metabolizma Hastalıkları kliniğine tedavisinin tekrar düzenlenmesi amacı ile yatırılmıştır. Artmış enerji ihtiyacı dikkate alınarak uygulanan yüksek kalorili diyet ve karbonhidrat sayımı yapılarak uygulanan çoklu insülin enjeksiyonu içeren tedavi ile kilo alımı sağlanan hastada hedef kan şekerleri değerlerine de ulaşılmıştır. Bu yazıda kliniğimizde ilk kez takip ettiğimiz KFİDM vakasını, hastalığın patogenezi, tedavisi ve seyrini literatür derlemesi ile birlikte sunarak; zaman içinde daha çok karşılaşmayı beklediğimiz diyabetin bu özel tipine dikkat çekmeyi planladık. Türk Jem 2012; 16: 75-8 Anah tar ke li me ler: Kistik fibrozis ilişkili diyabetes mellitus, tedavi, diyet Abs tractThe incidence of cystic fibrosis-related diabetes (CFRD) has increased, since the life expectancy of cystic fibrosis (CF) patients continues to improve. CFRD increases the mortality in patients, because of the negative impacts of CFRD on pulmonary functions. Knowledge of the pathogenesis and course of the disease is essential to administer the appropriate therapy. A thirty-one-year-old CFRD patient, who had hypoglycemia and weight loss under the calorie restriction diet and basal insulin therapy, was admitted to the Endocrinology Department for revision of her therapy. A high-calorie diet considering increased energy demand and multiple insulin injections according the carbohydrate counting were administered to the patient. She gained weight and target blood glucose levels were achieved as a result of this therapy. We present the first case with CFRD followed in our clinic with the review of the literature about the pathogenesis, course and therapy of this disease to draw attention to a special kind of diabetes, which we will encounter more frequently. Turk Jem 2012; 16: 74-8

show abstract

“…Potential therapies for class-specific correction/modulation of underlying CFTR defects are indicated. *HGF, hepatocyte growth factor enhances CFTR retention/anchoring at the cell surface (another epithelial chloride/bicarbonate channel that interacts with CFTR), and single-nucleotide polymorphisms (SNPs) for type 2 diabetes at or near CDKAL1, CDKN2A/B, and IGF2BP2 were found to be associated with CFRD, as well (13), and Derbel et al (14) presented the first evidence for an involvement of a polymorphism in the CAPN10 gene in the pathogenesis of CFRD. A further candidate gene approach revealed the modifying effects of a variant in the TCF7L2 gene that associates with both type 2 diabetes and CFRD, supporting the concept that diabetes develops in patients who may have underlying susceptibility to b-cell dysfunction (15).…”

Section: Cftr Gene Mutations: Genotype-phenotype Correlationsmentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Cystic fibrosis-related diabetes: novel pathogenic insights opening new therapeutic avenues

Barrio¹

2015

European Journal of Endocrinology

View full text Add to dashboard Cite

Cystic fibrosis (CF) is a recessive genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR). CFTR is primarily present in epithelial cells of the airways, intestine and in cells with exocrine and endocrine functions. Mutations in the gene encoding the channel protein complex (CFTR) cause alterations in the ionic composition of secretions from the lung, gastrointestinal tract, liver, and also the pancreas. CF-related diabetes (CFRD), the most common complication of CF, has a major detrimental impact on pulmonary function, nutrition and survival. Glucose derangements in CF seem to start from early infancy and, even when the pathophysiology is multifactorial, insulin insufficiency is clearly a major component. Consistently, recent evidence has confirmed that CFTR is an important regulator of insulin secretion by islet b-cells. In addition, several other mechanisms were also recognized from cellular and animals models also contributing to either b-cell mass reduction or b-cell malfunction. Understanding such mechanisms is crucial for the development of the so-called 'transformational' therapies in CF, including the preservation of insulin secretion. Innovative therapeutic approaches aim to modify specific CFTR mutant proteins or positively modulate their function. CFTR modulators have recently shown in vitro capacity to enhance insulin secretion and thereby potential clinical utility in CFDR, including synergistic effects between corrector and potentiator drugs. The introduction of incretins and the optimization of exocrine pancreatic replacement complete the number of therapeutic options of CFRD besides early diagnosis and implementation of insulin therapy. This review focuses on the recently identified pathogenic mechanisms leading to CFRD relevant for the development of novel pharmacological avenues in CFRD therapy.

show abstract

Calpain 10 and development of diabetes mellitus in cystic fibrosis

Cited by 28 publications

References 33 publications

Calpain-10 SNP43 and SNP19 Polymorphisms and Colorectal Cancer: a Matched Case-control Study

Calpain-10 SNP43 and SNP19 Polymorphisms and Colorectal Cancer: a Matched Case-control Study

Cystic Fibrosis Related Diabetes: A Case Report

MANAGEMENT OF ENDOCRINE DISEASE: Cystic fibrosis-related diabetes: novel pathogenic insights opening new therapeutic avenues

Contact Info

Product

Resources

About