Expression and functional analysis of intestinal organic cation/l-carnitine transporter (OCTN) in Crohn's Disease

Girardin, Marc; Dionne, Serge; Goyette, Philippe; Rioux, John D.; Bitton, Alain; Elimrani, Ihsan; Charlebois, Patrick; Qureshi, Ijaz A.; Lévy, Émile; Seidman, Ernest G.

doi:10.1016/j.crohns.2011.08.003

Cited by 20 publications

(18 citation statements)

References 38 publications

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“…Carnitine supplementation in these situations raises the tissue carnitine concentrations to only 5–10% of normal, and this seems sufficient for normal function 46 . Even though decrease-of-function mutations in the OCTN transporters have been demonstrated in a significant number of patients with IBD and CD, many of these patients do not show any evidence of plasma carnitine deficiency 47 . This may be accounted for by differences between plasma and tissue carnitine levels since human studies have not reported intestinal tissue carnitine levels.…”

Section: Discussionmentioning

confidence: 91%

Enzymes involved in l-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: Implications for gut health

Shekhawat

Sonne

Carter

et al. 2013

Journal of Crohn's and Colitis

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Background-Carnitine is essential for mitochondrial β-oxidation of long-chain fatty acids. Deficiency of carnitine leads to severe gut atrophy, ulceration and inflammation in animal models of carnitine deficiency. Genetic studies in large populations have linked mutations in the carnitine transporters OCTN1 and OCTN2 with Crohn's disease (CD), while other studies at the same time have failed to show a similar association and report normal serum carnitine levels in CD patients.

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Section: Discussionmentioning

confidence: 91%

Enzymes involved in l-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: Implications for gut health

Shekhawat

Sonne

Carter

et al. 2013

Journal of Crohn's and Colitis

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“…They are located within the IBD5 gene, which codes two transporters for carnitine 2: OCTN1 and OCTN2. The first one decreases transport of carnitine and increases transport of cations, while the second one inhibits carnitine uptake [13]. DLG5 (discs large homolog 5) gene, which belongs to MAGUK (membrane-associated guanylate kinase), is another SNP associated with mucosal membrane integrity.…”

Section: Crohn's Disease and Ulcerative Colitisgenetic And Molecular mentioning

confidence: 99%

“…In 2007, Hampe et al [15] proved that polymorphism in Thr300Ala in the AT-G16L1 gene (bacterial autophagy) is associated with CD. A meta-analysis has been conducted revealing that variant rs2241880/T300A of this gene may contribute to CD development in childhood; however, it has not been confirmed for UC [13]. Therefore, it seems that AT-G16L1 is an SNP gene for CD exclusively.…”

Section: Crohn's Disease and Ulcerative Colitisgenetic And Molecular mentioning

confidence: 99%

“…In many cases monogenic IBD is accompanied with folliculitis and/or arthritis. The first symptoms may even appear in the first weeks of life [8][9][10][11][12][13]. This IL-10RA-deficient VEO-IBD is also known to be refractory to conventional medical management and may require very specific therapies such as bone marrow or stem cell transplantation [4,5,13].…”

Section: Very Early Onset Ibd and Infantile Ibdmentioning

confidence: 99%

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Inflammatory bowel disease – one entity with many molecular faces

Szymańska

Matuszczyk

Osuch³

et al. 2019

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Inflammatory bowel disease (IBD) is a heterogenous group of chronic inflammations in the gastrointestinal tract, which traditionally consists of two types: Crohn's disease and ulcerative colitis. They differ when it comes to clinical, endoscopic, and histopathological changes. The exact aetiology of IBD has not been fully comprehended, but what is known so far is that the aetiopathogenesis of the disease is compound. Many articles have been written on the cellular/molecular background of IBD. Based on various molecular pathways, new forms of the disease have been discovered, including very early-onset IBD (VEO-IBD) or IBD coexisting with primary sclerosing cholangitis. The aim of this article is to present the molecular mechanisms leading to IBD, focusing on new forms of this disorder.

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“…The solute carrier family 22 member 4 ( SLC22A4 ) gene is important for barrier function, encoding an organic cation transporter protein involved in the movement of proteins across the membrane of epithelial cells. McCann et al considered the risk variant (rs1050152 at position 503F) which has a higher transport activity compared with the wild-type gene, leading to inappropriate transport of organic cations across the intestinal epithelial barrier [71]. As their example of a mutant that affected immune response, they utilised a variant in the gene encoding interleukin-10 ( IL10 ).…”

Section: In Vitro Approaches To Identifying Bioactive Food Componementioning

confidence: 99%

Why Are Omics Technologies Important to Understanding the Role of Nutrition in Inflammatory Bowel Diseases?

Ferguson

Barnett

2016

IJMS

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For many years, there has been confusion about the role that nutrition plays in inflammatory bowel diseases (IBD). It is apparent that good dietary advice for one individual may prove inappropriate for another. As with many diseases, genome-wide association studies across large collaborative groups have been important in revealing the role of genetics in IBD, with more than 200 genes associated with susceptibility to the disease. These associations provide clues to explain the differences in nutrient requirements among individuals. In addition to genes directly involved in the control of inflammation, a number of the associated genes play roles in modulating the gut microbiota. Cell line models enable the generation of hypotheses as to how various bioactive dietary components might be especially beneficial for certain genetic groups. Animal models are necessary to mimic aspects of the complex aetiology of IBD, and provide an important link between tissue culture studies and human trials. Once we are sufficiently confident of our hypotheses, we can then take modified diets to an IBD population that is stratified according to genotype. Studies in IBD patients fed a Mediterranean-style diet have been important in validating our hypotheses and as a proof-of-principle for the application of these sensitive omics technologies to aiding in the control of IBD symptoms.

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Expression and functional analysis of intestinal organic cation/l-carnitine transporter (OCTN) in Crohn's Disease

Cited by 20 publications

References 38 publications

Enzymes involved in l-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: Implications for gut health

Enzymes involved in l-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: Implications for gut health

Inflammatory bowel disease – one entity with many molecular faces

Why Are Omics Technologies Important to Understanding the Role of Nutrition in Inflammatory Bowel Diseases?

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