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[PMID]:25526748
[Au] Autor:Ciecierega T; Dweikat I; Awar M; Shahrour M; Libdeh BA; Sultan M
[Ad] Endereço:New York Presbyterian, Weill Cornell Medical College, New York, USA. ciecierega@gmail.com.
[Ti] Título:Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease.
[So] Source:BMC Pediatr;14:311, 2014 Dec 20.
[Is] ISSN:1471-2431
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Celiac disease (CD) is a complex autoimmune disorder that can lead to an inflammatory small intestinal villous atrophy and malabsorption. Hartnup disease is an autosomal recessive disorder caused by increased urinary excretion of neutral amino acids. Co-occurrence of Hartnup disease and CD is extremely rare with only a single case reported. CASE PRESENTATION: We report a 3-year girl with chronic diarrhea, Hypoalbuminemia and exfoliative erythema. She was diagnosed with celiac disease, which did not improve on gluten free diet. Hartnup disease was suspected and was confirmed by neutral aminoaciduria. Niacin was started and followed by dramatic improvement. CONCLUSION: Presence of Celiac and Hartnup disease in single individual is very rare. Complete nutritional assessment of refractory celiac patient can reveal underlying nutritional deficiency.
[Mh] Termos MeSH primário: Doença Celíaca/complicações
Dermatite Esfoliativa/etiologia
Diarreia/etiologia
Doença de Hartnup/complicações
Hipoalbuminemia/etiologia
[Mh] Termos MeSH secundário: Pré-Escolar
Doença Crônica
Eritema/etiologia
Feminino
Seres Humanos
Niacina/deficiência
Niacina/uso terapêutico
Complexo Vitamínico B/uso terapêutico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
12001-76-2 (Vitamin B Complex); 2679MF687A (Niacin)
[Em] Mês de entrada:1510
[Cu] Atualização por classe:151119
[Lr] Data última revisão:
151119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141221
[St] Status:MEDLINE
[do] DOI:10.1186/s12887-014-0311-6


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[PMID]:22451125
[Au] Autor:Jimenez E; Ormazabal A; Serrano M; Ortez-Gonzalez CI; Artuch R; Garcia-Cazorla A; Campistol J
[Ad] Endereço:Hospital Sant Joan de Deu, 08950 Esplugues de Llobregat, Espana. erika.jimenezgonzalez@gmail.com
[Ti] Título:[Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases].
[Ti] Título:Aminoacidos en liquido cefalorraquideo y plasma: utilidad en el estudio de las enfermedades neuropediatricas..
[So] Source:Rev Neurol;54(7):394-8, 2012 Apr 01.
[Is] ISSN:1576-6578
[Cp] País de publicação:Spain
[La] Idioma:spa
[Ab] Resumo:INTRODUCTION: Studying the amino acids in cerebrospinal fluid (CSF) is essential in the diagnosis of some neurological diseases and is an important aid in the diagnosis of others. No research has been published in the literature to prove the physiological relationship between the values of amino acids in CSF and plasma in the paediatric population. AIM: To define a set of ratios for amino acids in plasma and CSF in the paediatric population that can be used in daily clinical practice. PATIENTS AND METHODS: The aminograms in plasma and CSF of 105 patients with ages between 0 and 12 months were collected and analysed retrospectively. Aminograms with amino acid values that are considered to be normal according to the reference values of our laboratory were included in the sample. The quantitative analysis of amino acids was performed using high-resolution liquid chromatography and statistical analysis with the software application SPSS 19.0. RESULTS: The mean values, range and standard deviation of the amino acid concentrations in plasma and CSF, together with the CSF/plasma ratios, are reported. Significant correlations were found from 0.6 onwards between different neutral amino acids, above all in those with smaller molecular weights (Thr, Ser, Gly and Ala). CONCLUSIONS: The existence of significant correlations between the different neutral amino acids supports the idea that they share the same transporters in the blood-brain barrier. Standardising the amino acid ratios will make it possible to increase sensitivity in the detection of pathological values in plasma and CSF, to further knowledge of the pathophysiology of neurological diseases and perhaps to describe new aminoacidopathies.
[Mh] Termos MeSH primário: Aminoácidos/sangue
Aminoácidos/líquido cefalorraquidiano
Doenças do Sistema Nervoso/sangue
Doenças do Sistema Nervoso/líquido cefalorraquidiano
[Mh] Termos MeSH secundário: Aminoácidos Neutros/sangue
Aminoácidos Neutros/síntese química
Barreira Hematoencefálica
Cromatografia Líquida de Alta Pressão
Feminino
Doença de Hartnup/diagnóstico
Seres Humanos
Lactente
Recém-Nascido
Masculino
Erros Inatos do Metabolismo/sangue
Erros Inatos do Metabolismo/líquido cefalorraquidiano
Peso Molecular
Malformações do Sistema Nervoso/sangue
Malformações do Sistema Nervoso/líquido cefalorraquidiano
Valores de Referência
Estudos Retrospectivos
Punção Espinal
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Amino Acids); 0 (Amino Acids, Neutral)
[Em] Mês de entrada:1207
[Cu] Atualização por classe:120327
[Lr] Data última revisão:
120327
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120328
[St] Status:MEDLINE


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[PMID]:21814048
[Au] Autor:Singer D; Camargo SM
[Ad] Endereço:INRA/AgroParisTech, Paris, France. dustin.singer@agroparistech.fr
[Ti] Título:Collectrin and ACE2 in renal and intestinal amino acid transport.
[So] Source:Channels (Austin);5(5):410-23, 2011 Sep-Oct.
[Is] ISSN:1933-6969
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Neutral amino acid transporters of the SLC6 family are expressed at the apical membrane of kidney and/or small intestine, where they (re-)absorb amino acids into the body. In this review we present the results concerning the dependence of their apical expression with their association to partner proteins. We will in particular focus on the situation of B0AT1 and B0AT3, that associate with members of the renin-angiotensin system (RAS), namely Tmem27 and angiotensin-converting enzyme 2 (ACE2), in a tissue specific manner. The role of this association in relation to the formation of a functional unit related to Na+ or amino acid transport will be assessed. We will conclude with some remarks concerning the relevance of this association to Hartnup disorder, where some mutations have been shown to differentially interact with the partner proteins.
[Mh] Termos MeSH primário: Aminoácidos/metabolismo
Intestino Delgado/metabolismo
Rim/metabolismo
Glicoproteínas de Membrana/metabolismo
Peptidil Dipeptidase A/metabolismo
[Mh] Termos MeSH secundário: Sistemas de Transporte de Aminoácidos Neutros/genética
Sistemas de Transporte de Aminoácidos Neutros/metabolismo
Aminoácidos/genética
Animais
Transporte Biológico/fisiologia
Doença de Hartnup/genética
Doença de Hartnup/metabolismo
Seres Humanos
Glicoproteínas de Membrana/genética
Camundongos
Especificidade de Órgãos/fisiologia
Peptidil Dipeptidase A/genética
Sistema Renina-Angiotensina/fisiologia
Sódio/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Amino Acid Transport Systems, Neutral); 0 (Amino Acids); 0 (Membrane Glycoproteins); 0 (SLC6A19 protein, human); 0 (SLC6A19 protein, mouse); 0 (TMEM27 protein, human); 0 (Tmem27 protein, mouse); 9NEZ333N27 (Sodium); EC 3.4.15.1 (Peptidyl-Dipeptidase A); EC 3.4.17.- (angiotensin converting enzyme 2)
[Em] Mês de entrada:1202
[Cu] Atualização por classe:131121
[Lr] Data última revisão:
131121
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110805
[St] Status:MEDLINE
[do] DOI:10.4161/chan.5.5.16470


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[PMID]:21636576
[Au] Autor:Bröer A; Juelich T; Vanslambrouck JM; Tietze N; Solomon PS; Holst J; Bailey CG; Rasko JE; Bröer S
[Ad] Endereço:Research School of Biology, Australian National University, Canberra, Australian Capital Territory 0200, Australia. Stefan.broer@anu.edu.au
[Ti] Título:Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse.
[So] Source:J Biol Chem;286(30):26638-51, 2011 Jul 29.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Amino acid uptake in the intestine and kidney is mediated by a variety of amino acid transporters. To understand the role of epithelial neutral amino acid uptake in whole body homeostasis, we analyzed mice lacking the apical broad-spectrum neutral (0) amino acid transporter B(0)AT1 (Slc6a19). A general neutral aminoaciduria was observed similar to human Hartnup disorder which is caused by mutations in SLC6A19. Na(+)-dependent uptake of neutral amino acids into the intestine and renal brush-border membrane vesicles was abolished. No compensatory increase of peptide transport or other neutral amino acid transporters was detected. Mice lacking B(0)AT1 showed a reduced body weight. When adapted to a standard 20% protein diet, B(0)AT1-deficient mice lost body weight rapidly on diets containing 6 or 40% protein. Secretion of insulin in response to food ingestion after fasting was blunted. In the intestine, amino acid signaling to the mammalian target of rapamycin (mTOR) pathway was reduced, whereas the GCN2/ATF4 stress response pathway was activated, indicating amino acid deprivation in epithelial cells. The results demonstrate that epithelial amino acid uptake is essential for optimal growth and body weight regulation.
[Mh] Termos MeSH primário: Sistemas de Transporte de Aminoácidos Neutros/metabolismo
Peso Corporal/fisiologia
Ingestão de Alimentos/fisiologia
Células Epiteliais/metabolismo
Transdução de Sinais/fisiologia
[Mh] Termos MeSH secundário: Fator 4 Ativador da Transcrição/genética
Fator 4 Ativador da Transcrição/metabolismo
Sistemas de Transporte de Aminoácidos Neutros/genética
Animais
Proteínas na Dieta
Doença de Hartnup/genética
Doença de Hartnup/metabolismo
Seres Humanos
Insulina/genética
Insulina/secreção
Camundongos
Camundongos Mutantes
Mutação
Proteínas Serina-Treonina Quinases/genética
Proteínas Serina-Treonina Quinases/metabolismo
Serina-Treonina Quinases TOR/genética
Serina-Treonina Quinases TOR/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Amino Acid Transport Systems, Neutral); 0 (Atf4 protein, mouse); 0 (Dietary Proteins); 0 (Insulin); 0 (SLC6A19 protein, mouse); 145891-90-3 (Activating Transcription Factor 4); EC 2.7.1.1 (TOR Serine-Threonine Kinases); EC 2.7.1.1 (mTOR protein, mouse); EC 2.7.11.1 (Eif2ak4 protein, mouse); EC 2.7.11.1 (Protein-Serine-Threonine Kinases)
[Em] Mês de entrada:1109
[Cu] Atualização por classe:150204
[Lr] Data última revisão:
150204
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110604
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M111.241323


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[PMID]:20824986
[Au] Autor:Orbak Z; Ertekin V; Selimoglu A; Yilmaz N; Tan H; Konak M
[Ad] Endereço:Department of Pediatric Endocrinology and Metabolism, Ataturk University, Erzurum, Turkey. zerrinobak@yahoo.com
[Ti] Título:Hartnup disease masked by kwashiorkor.
[So] Source:J Health Popul Nutr;28(4):413-5, 2010 Aug.
[Is] ISSN:1606-0997
[Cp] País de publicação:Bangladesh
[La] Idioma:eng
[Ab] Resumo:This report describes an 11-month old girl with Hartnup disease presenting with kwashiorkor and acrodermatitis enteropathica-like skin lesions but free of other clinical findings. This case with kwashiorkor had acrodermatitis enteropathica-like desquamative skin eruption. Since zinc level was in the normal range, investigation for a metabolic disorder was considered, and Hartnup disease was diagnosed.
[Mh] Termos MeSH primário: Doença de Hartnup/complicações
Doença de Hartnup/diagnóstico
Kwashiorkor/complicações
[Mh] Termos MeSH secundário: Acrodermatite/complicações
Aminoácidos Neutros/urina
Nádegas/patologia
Diagnóstico Diferencial
Evolução Fatal
Feminino
Doença de Hartnup/urina
Seres Humanos
Indicã/urina
Lactente
Kwashiorkor/urina
Períneo/patologia
Turquia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Amino Acids, Neutral); N187WK1Y1J (Indican)
[Em] Mês de entrada:1010
[Cu] Atualização por classe:141202
[Lr] Data última revisão:
141202
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100910
[St] Status:MEDLINE


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[PMID]:20399395
[Au] Autor:Cheon CK; Lee BH; Ko JM; Kim HJ; Yoo HW
[Ad] Endereço:Department of Pediatrics, Genetic and Metabolic Clinic, Children's Hospital, Pusan National University, Gyeongnam, South Korea.
[Ti] Título:Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
[So] Source:Pediatr Neurol;42(5):369-71, 2010 May.
[Is] ISSN:1873-5150
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hartnup disorder is caused by an inborn error of neutral amino acid transport in the kidneys and intestines. It is characterized by pellagra-like rash, ataxia, and psychotic behavior. Elevated urinary neutral amino acids are the first indicator of the disorder. SLC6A19 was identified as the causative gene in autosomal-recessive Hartnup disorder, which encodes the amino acid transporter B(0)AT1, mediating neutral amino acid transport from the luminal compartment to the intracellular space. Here, we report on a Korean boy aged 8 years and 5 months with Hartnup disorder, as confirmed by SLC6A19 gene analysis. He manifested seizures, attention-deficit hyperactivity disorder, and mental retardation without pellagra or ataxia. Multiple neutral amino acids were increased in his urine, and genetic analysis of SLC6A19 revealed compound heterozygous mutations, c.908C>T (p.Ser303Leu) and c.1787_1788insG (p.Thr596fsX73), both of which are novel. A novel SLC6A19 gene mutation was associated with late-onset seizures in a Korean patient with Hartnup disorder.
[Mh] Termos MeSH primário: Sistemas de Transporte de Aminoácidos Neutros/genética
Doença de Hartnup/complicações
Doença de Hartnup/genética
Mutação/genética
Convulsões/etiologia
Convulsões/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Criança
Doença de Hartnup/diagnóstico
Seres Humanos
Masculino
Dados de Sequência Molecular
Convulsões/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Amino Acid Transport Systems, Neutral); 0 (SLC6A19 protein, human)
[Em] Mês de entrada:1010
[Cu] Atualização por classe:100419
[Lr] Data última revisão:
100419
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100420
[St] Status:MEDLINE
[do] DOI:10.1016/j.pediatrneurol.2010.01.009


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[PMID]:20134107
[Au] Autor:Koizumi A
[Ad] Endereço:Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. koizumi@pbh.med.kyoto-u.ac.jp
[Ti] Título:[Toward a more rational field-genetic epidemiology].
[So] Source:Nihon Eiseigaku Zasshi;65(1):37-47, 2010 Jan.
[Is] ISSN:0021-5082
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Genetic dissection of diseases is one of the epoch-making achievements in modern medicine. Positional cloning is a key method to isolate disease-related genes. For positional cloning, there are two conventional methods: family-based studies and case-control studies. In this review, I would like to describe several family-based studies on single gene diseases which I had conducted including those of Akita diabetic mice, systemic carnitine deficiency and Hartnup disease. The study of systemic carnitine deficiency underscored a potential power of the "Carrier state." Furthermore, cultural and public health practices in Japan such as preservation of umbilical cords and mother and child passbooks enabled us to conduct linkage analysis even 20 years after the deaths of affected patients in Hartnup disease. For multifactorial diseases, I present three family-based studies: intracranial aneurysm, moyamoya and arteriovenous malformation. Finally, I discuss on theoretical issues concerning the relationship among odds ratio, phenocopy rate and penetrance by formulating a single-locus dominant association model. Analysis of the model predicted a notion that a large odds ratio facilitates familial clustering of multifactorial diseases and vice versa is the case. Furthermore, the analysis predicted that genetic markers for screening should have odds ratio >/= eight to maintain similar qualities commonly required for clinical tests. Collectively, the analysis predicted a two-stage study design composed of linkage analysis based on a family study and subsequent replication by a case-control association study is more rational than the currently used two-independent case-control design. This newly proposed method is expected to provide polymorphisms, which have large odds ratios, requiring only minimum research budgets.
[Mh] Termos MeSH primário: Predisposição Genética para Doença
Epidemiologia Molecular
[Mh] Termos MeSH secundário: Animais
Carnitina/deficiência
Estudos de Casos e Controles
Mapeamento Cromossômico
Clonagem Molecular/métodos
Diabetes Mellitus/genética
Doença de Hartnup/genética
Seres Humanos
Aneurisma Intracraniano/genética
Camundongos
Doença de Moyamoya/genética
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
S7UI8SM58A (Carnitine)
[Em] Mês de entrada:1004
[Cu] Atualização por classe:151119
[Lr] Data última revisão:
151119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100206
[St] Status:MEDLINE


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[PMID]:19472175
[Au] Autor:Bröer S
[Ad] Endereço:School of Biology, College of Medicine, Biology and Environment, Australian National University, Canberra, Australian Capital Territory, Australia. Stefan.broeer@anu.edu.au
[Ti] Título:The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.
[So] Source:IUBMB Life;61(6):591-9, 2009 Jun.
[Is] ISSN:1521-6551
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral amino acids accompanied by a variety of symptoms, such as a photo-sensitive skin-rash and cerebellar ataxia. The disorder is caused by mutations in the neutral amino acid transporter B(0)AT1 (SLC6A19). To date 21 mutations have been identified in more than twenty families. SLC6A19 requires either collectrin or angiotensin-converting enzyme 2 for surface expression in the kidney and intestine, respectively. This ties SLC6A19 together with more complex functions such as blood-pressure control, glomerular structure, and exocytosis.
[Mh] Termos MeSH primário: Sistemas de Transporte de Aminoácidos Neutros/fisiologia
Doença de Hartnup/fisiopatologia
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Sistemas de Transporte de Aminoácidos Neutros/genética
Animais
Seres Humanos
Glicoproteínas de Membrana/deficiência
Camundongos
Peptidil Dipeptidase A/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Amino Acid Transport Systems, Neutral); 0 (Membrane Glycoproteins); 0 (SLC6A19 protein, human); 0 (Tmem27 protein, mouse); EC 3.4.15.1 (Peptidyl-Dipeptidase A); EC 3.4.17.- (angiotensin converting enzyme 2)
[Em] Mês de entrada:0909
[Cu] Atualização por classe:090601
[Lr] Data última revisão:
090601
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:090528
[St] Status:MEDLINE
[do] DOI:10.1002/iub.210


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[PMID]:19335424
[Au] Autor:Zheng Y; Zhou C; Huang Y; Bu D; Zhu X; Jiang W
[Ad] Endereço:Department of Dermatology, Peking University First and Third Hospital, Beijing and He Ping Hospital, Chang Zhi Medical College, Changzhi, China.
[Ti] Título:A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.
[So] Source:Int J Dermatol;48(4):388-92, 2009 Apr.
[Is] ISSN:1365-4632
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Hartnup disease is a rare autosomal-recessive abnormality of renal and gastrointestinal neutral amino acid transport associated with neurologic, psychiatric, and dermatologic symptoms. Mutations in the SLC6A19 gene have been proposed to be responsible for the underlying changes in this disorder. AIM: To investigate a pedigree with Hartnup disorder and to search for the mutation in the SLC6A19 gene in this pedigree. METHODS: The encoding exons of the SLC6A19 gene were amplified and sequenced from genomic DNA samples. Amino acids were determined in urine samples from the proband and her family members. RESULTS: The proband and her brother had a homozygous mutation of c.850G > A in the SLC6A19 gene, causing G284R in the transmembrane domain of the SLC6A19 transporter, inherited from their parents who were heterozygous carriers. Their urine samples showed increased values of eight neutral amino acids. CONCLUSION: We found a novel homozygous mutation of G284R in the transmembrane domain of the SLC6A19 transporter in the proband, with typical dermatologic and neurologic manifestations and increased levels of urinary neutral amino acids.
[Mh] Termos MeSH primário: Sistemas de Transporte de Aminoácidos Neutros/genética
Grupo com Ancestrais do Continente Asiático/genética
Doença de Hartnup/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Aminoácidos/urina
Éxons/genética
Saúde da Família
Feminino
Doença de Hartnup/metabolismo
Seres Humanos
Masculino
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Amino Acid Transport Systems, Neutral); 0 (Amino Acids); 0 (SLC6A19 protein, human)
[Em] Mês de entrada:0907
[Cu] Atualização por classe:090401
[Lr] Data última revisão:
090401
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:090402
[St] Status:MEDLINE
[do] DOI:10.1111/j.1365-4632.2009.03989.x


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[PMID]:19185582
[Au] Autor:Camargo SM; Singer D; Makrides V; Huggel K; Pos KM; Wagner CA; Kuba K; Danilczyk U; Skovby F; Kleta R; Penninger JM; Verrey F
[Ad] Endereço:Institute of Physiology and Zürich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
[Ti] Título:Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
[So] Source:Gastroenterology;136(3):872-82, 2009 Mar.
[Is] ISSN:1528-0012
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND & AIMS: Hartnup amino acid transporter B(0)AT1 (SLC6A19) is the major luminal sodium-dependent neutral amino acid transporter of small intestine and kidney proximal tubule. The expression of B(0)AT1 in kidney was recently shown to depend on its association with collectrin (Tmem27), a protein homologous to the membrane-anchoring domain of angiotensin-converting enzyme (ACE) 2. METHODS: Because collectrin is almost absent from small intestine, we tested the hypothesis that it is ACE2 that interacts with B(0)AT1 in enterocytes. Furthermore, because B(0)AT1 expression depends on an associated protein, we tested the hypothesis that Hartnup-causing B(0)AT1 mutations differentially impact on B(0)AT1 interaction with intestinal and kidney accessory proteins. RESULTS: Immunofluorescence, coimmunoprecipitation, and functional experiments using wild-type and ace2-null mice showed that expression of B(0)AT1 in small intestine critically depends on ACE2. Coexpressing new and previously identified Hartnup disorder-causing missense mutations of B(0)AT1 with either collectrin or ACE2 in Xenopus laevis oocytes showed that the high-frequency D173N and the newly identified P265L mutant B(0)AT1 transporters can still be activated by ACE2 but not collectrin coexpression. In contrast, the human A69T and R240Q B(0)AT1 mutants cannot be activated by either of the associated proteins, although they function as wild-type B(0)AT1 when expressed alone. CONCLUSIONS: We thus show that ACE2 is necessary for the expression of the Hartnup transporter in intestine and suggest that the differential functional association of mutant B(0)AT1 transporters with ACE2 and collectrin in intestine and kidney, respectively, participates in the phenotypic heterogeneity of human Hartnup disorder.
[Mh] Termos MeSH primário: Sistemas de Transporte de Aminoácidos Neutros/metabolismo
Doença de Hartnup/metabolismo
Glicoproteínas de Membrana/metabolismo
Peptidil Dipeptidase A/metabolismo
[Mh] Termos MeSH secundário: Sistemas de Transporte de Aminoácidos Neutros/genética
Animais
Regulação da Expressão Gênica
Doença de Hartnup/genética
Seres Humanos
Intestino Delgado/fisiologia
Túbulos Renais Proximais/fisiologia
Glicoproteínas de Membrana/genética
Camundongos
Camundongos Knockout
Mutação
Oócitos/fisiologia
Técnicas de Patch-Clamp
Peptidil Dipeptidase A/genética
Fenótipo
Polimorfismo de Nucleotídeo Único
Xenopus laevis
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Amino Acid Transport Systems, Neutral); 0 (Membrane Glycoproteins); 0 (SLC6A19 protein, mouse); 0 (Tmem27 protein, mouse); EC 3.4.15.1 (Peptidyl-Dipeptidase A); EC 3.4.17.- (angiotensin converting enzyme 2)
[Em] Mês de entrada:0904
[Cu] Atualização por classe:090227
[Lr] Data última revisão:
090227
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:090203
[St] Status:MEDLINE
[do] DOI:10.1053/j.gastro.2008.10.055



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