Measurements of CFTR-Mediated Cl- Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis

PLoS ONE

Volumn 7, Issue 10, 2012, Pages

  Sousa, Marisa ^a,b   Servidoni, Maria F ^c   Vinagre, Adriana M ^c   Ramalho, Anabela S ^a,b   Bonadia, Luciana C ^c   Felício, Verónica ^a   Ribeiro, Maria A ^c   Uliyakina, Inna ^a,b   Marson, Fernando A ^c   Kmit, Arthur ^c   Cardoso, Silvia R ^c,d   Ribeiro, José D ^c   Bertuzzo, Carmen S ^c   Sousa, Lisete ^e   Kunzelmann, Karl ^f   Ribeiro, Antônio F ^c   Amaral, Margarida D ^a,b  

^a UNIVERSITY OF LISBON   (Portugal)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c UNIVERSITY OF CAMPINAS   (Brazil)

^d Endoscopy Unit University Hospital of Campinas   (Brazil)

^e Center of Statistics Applications of Lisbon University CEAUL   (Portugal)

^f UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CHLORIDE ION; CYCLIC AMP; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; CFTR GENE; CHLORIDE SECRETION; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; CYSTIC FIBROSIS; DIAGNOSTIC TEST ACCURACY STUDY; GENE; GENE FUNCTION; GENOTYPE; HUMAN; HUMAN TISSUE; LUNG DISEASE; MAJOR CLINICAL STUDY; PANCREAS INSUFFICIENCY; PROGNOSIS; RECTUM BIOPSY; SCORING SYSTEM; SECRETION (PROCESS); SENSITIVITY AND SPECIFICITY; SWEAT TEST;

1-METHYL-3-ISOBUTYLXANTHINE; BIOLOGICAL MARKERS; BIOPSY; CARBACHOL; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FORSKOLIN; GENOTYPE; HUMANS; ION CHANNEL GATING; PROGNOSIS; RECTUM; TREATMENT OUTCOME;

EID: 84867641604     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0047708     Document Type: Article

References (52)

1. Rommens JM, Ianuzzi MC, Kerem B, Drumm M, Melmer G, et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245: 1059-1065.
2. Kerem B, Rommens J, Buchanan J, Markiewicz D, Cox T, et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073-1080.
3. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066-1073.
4. Rich DP, Anderson MP, Gregory RJ, Cheng SH, Paul S, et al. (1990) Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. Nature 347: 358-363.
5. Rowe SM, Miller S, Sorscher EJ, (2005) Cystic Fibrosis. N Engl J Med 352: 1992-2001.
6. Collins FS, (1992) Cystic fibrosis: molecular biology and therapeutic implications. Science 256: 774-779.
7. Rosenstein BJ, Cutting GR, (1998) The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatrics 132: 589-595.
8. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, et al. (2008) Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report. J Pediatrics 153: S4-S14.
9. Bobadilla JL, Macek Jr M, Fine JP, Farrell PM, (2002) Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 19: 575-606.
10. De BoeK, Wilschanski M, Castellani C, Taylor C, Cuppens H, et al. (2006) Cystic fibrosis: terminology and diagnostic algorithms. Thorax 61: 627-635.
11. Boyle MP, (2003) Nonclassic cystic fibrosis and CFTR-related diseases. Curr Opin Pulm Med 9: 498-503.
12. Noone PG, Knowles MR, (2001) "CFTR-opathies": disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2: 328-332.
13. Paranjape SM, Zeitlin PL, (2008) Atypical cystic fibrosis and CFTR-related diseases. Clin Rev Allergy Immunol 35: 116-123.
14. Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, et al. (2011) Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 10 (S2): S86-S102.
15. Parad RB, Comeau AM, (2005) Diagnostic Dilemmas resulting from the Immunoreactive Trypsinogen/DNA Cystic Fibrosis Newborn Screening Algorithm. Pediatrics 147: S78-S82.
16. Taylor CJ, Hardcastle J, Southern KW, (2009) Physiological Measurements Confirming the Diagnosis of Cystic Fibrosis: the Sweat Test and Measurements of Transepithelial Potential Difference. Paediatr Respir Rev 10: 220-226.
17. Mall M, Hirtz S, Gonska T, Kunzelmann K, (2004) Assessment of CFTR function in rectal biopsies for the diagnosis of cystic fibrosis. J Cyst Fibros 3 (S2): 165-169.
18. Hirtz S, Gonska T, Seydewitz HH, Thomas J, Greiner P, et al. (2004) CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. Gastroenterology 127: 1085-1095.
19. van Barneveld A, Stanke F, Ballmann M, Naim HY, Tümmler B, (2006) Ex vivo biochemical analysis of CFTR in human rectal biopsies. Biochim Biophys Acta 1762: 393-397.
20. Derichs N, Sanz J, Von Kanel T, Stolpe C, Zapf A, et al. (2010) Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax 65: 594-599.
21. van Barneveld A, Stanke F, Tamm S, Siebert B, Brandes G, et al. (2010) Functional analysis of F508del CFTR in native human colon. Biochim Biophys Acta 1802: 1062-1069.
22. The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus (2003) Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 26 (S1): S5-20.
23. Kanis J, (2000) Glüer C. Committee of Scientific Advisors, International Osteoporosis Foundation (2000) An update on the diagnosis and assessment of osteoporosis with densitometry. Osteoporos Int 11: 192-202.
24. Debray D, Kelly D, Houwen R, Strandvik B, Colombo C, (2011) Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease. J Cyst Fibros 10: S29-S36.
25. Mall M, Greger R, Seydewitz H, Al E, (1998) Detection of defective cholinergic Cl- secretion in human rectal biopsies for the diagnosis of Cystic Fibrosis. J Clin Invest 102: 15-21.
26. Mall M, Wissner A, Seydewitz HH, Kuehr J, Brandis M, et al. (2000) Defective cholinergic Cl- secretion and detection of K+ secretion in rectal biopsies from cystic fibrosis patients. Am J Physiol Gastrointest Liver Physiol 278: G617-G624.
27. Correia C (2005) Prevalência de seis mutações no gene CFTR em portadores de Fibrose Cística na região de Campinas. Universidade Estadual de Campinas, Campinas, SP, Brazil.
28. Bonadia L (2011) Correlação entre aspectos clínicos, moleculares e fisiológicos de pacientes adultos com hipótese diagnóstica de fibrose cística de um centro de referência no Brasil. Universidade Estadual de Campinas, Campinas, SP, Brazil.
29. Felício V (2011) Estudo e Caracterização de mutações no gene CFTR em Tecido Nativo de Doentes. Universidade Lusófona de Humanidades e Tecnologias, Lisboa, Portugal.
30. Castellani C, Cuppens H, Macek Jr M, Cassiman JJ, Kerem E, et al. (2008) Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 7: 179-196.
31. Mall M, Bleich M, Schurlein M, Kuhr J, Seydewitz HH, et al. (1998) Cholinergic ion secretion in human colon requires coactivation by cAMP. Am J Physiol 275(6 Pt 1): G1274-81.
32. Schaedel C, de Monestrol I, Hjelte L, Johannesson M, Kornfält R, et al. (2002) Predictors of deterioration of lung function in cystic fibrosis. Pediatr Pulmonol 33: 483-491.
33. Cleveland RH, Zurakowski D, Slattery D, Colin AA, (2009) Cystic fibrosis genotype and assessing rates of decline in pulmonary status. Radiology 253: 813-821.
34. Pratha VS, Hogan DL, Martensson BA, Bernard J, Zhou R, et al. (2000) Identification of transport abnormalities in duodenal mucosa and duodenal enterocytes from patients with cystic fibrosis. Gastroenterology 118: 1051-1060.
35. Mall M, Kreda SM, Mengos A, Jensen TJ, Hirtz S, et al. (2004) The DF508 Mutation Results in Loss of CFTR Function and Mature Protein in Native Human Colon. Gastroenterology 126: 32-41.
36. Knowles M, Gatzy J, Boucher R, (1981) Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis. N Engl J Med 305: 1489-1495.
37. Ho LP, Samways JM, Porteous DJ, Dorin JR, Carothers A, et al. (1997) Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis. Eur Respir J 10: 2018-2022.
38. Walker LC, Venglarik CJ, Aubin G, Weatherly MR, McCarty NA, et al. (1997) Relationship between airway ion transport and a mild pulmonary disease mutation in CFTR. Am J Respir Crit Care Med 155: 1684-1689.
39. Wallace H, Barker P, Southern K, (2003) Nasal airway ion transport and lung function in young people with cystic fibrosis. Am J Respir Crit Care Med 168: 594-600.
40. Standaert TA, Boitano L, Emerson J, Milgram LJ, Konstan MW, et al. (2004) Standardized procedure for measurement of nasal potential difference: an outcome measure in multicenter cystic fibrosis clinical trials. Pediatr Pulmonol 37: 385-392.
41. Sermet-gaudelus I, Girodon E, Roussel D, Deneuville E, Bui S, et al. (2010) Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis. Thorax 65: 539-544.
42. Yu H, Burton B, Huang C-J, Worley J, Cao D, et al. (2012) Ivacaftor potentiation of multiple CFTR channels with gating mutations. J Cyst Fibros Jan 30. [Epub ahead of print].
43. Roth EK, Hirtz S, Duerr J, Wenning D, Eichler I, et al. (2011) The K Channel Opener 1-EBIO Potentiates Residual Function of Mutant CFTR in Rectal Biopsies from Cystic Fibrosis Patients. PloS ONE 6(8): e24445.
44. Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, et al. (2010) Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med 363: 1991-2003.
45. Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, et al. (2011) A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation. N Engl J Med 365: 1663-1672.
46. Van Goor F, Hadida S, Grootenhuis PDJ, Burton B, Cao D, et al. (2009) Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci U S A 106: 18825-18830.
47. Shah S, (2011) VX-770, a CFTR potentiator, may have a potential clinical benefit in a subgroup of people with cystic fibrosis. Thorax 66: 984.
48. Clancy JP, Rowe SM, Accurso FJ, Aitken ML, Amin RS, et al. (2011) Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax 67: 12-18.
49. Amaral MD, (2005) Processing of CFTR: traversing the cellular maze-how much CFTR needs to go through to avoid cystic fibrosis? Pediatr Pulmonol 39: 479-491.
50. Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, et al. (2001) Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study. J Med Genet 38: 777-783.
51. Beck S, Penque D, Garcia S, Gomes A, Farinha C, et al. (1999) Cystic Fibrosis Patients With the 3272-26A → G Mutation Have Mild Disease, Leaky Alternative mRNA Splicing, and CFTR Protein at the Cell Membrane. Hum Mutat 144: 133-144.
52. Ramalho AS, Beck S, Meyer M, Penque D, Cutting GR, et al. (2002) Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis. Am J Respir Cell Mol Biol 27: 619-627.