The genetic background of osteoporosis in cystic fibrosis: Association analysis with polymorphic markers in four candidate genes

Castellani, Carlo; Malerba, Giovanni; Sangalli, Antonella; Delmarco, Antonella; Petrelli, E; Rossini, Maurizio; Assael, B.M.; Mottes, Monica

doi:10.1016/j.jcf.2006.03.008

Cited by 12 publications

(3 citation statements)

References 46 publications

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“…Furthermore, a functional study on the codon 447 SNP showed that there was no statistically significant difference between the proline 447 and leucine 447 variants with respect to their calcitonin-binding characteristics or their abilities to signal when stimulated with calcitonin [39]. The other SNP in the CALCR gene region, IMS-JST054515 (C/T, intron 3), has been suggested as a genomic marker for severe periodontitis in Japanese patients [40].…”

Section: Discussionmentioning

confidence: 99%

Fracture, bone mineral density, and the effects of calcitonin receptor gene in postmenopausal Koreans

Lee

Kim

et al. 2009

Osteoporos Int

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Section: Discussionmentioning

confidence: 99%

Fracture, bone mineral density, and the effects of calcitonin receptor gene in postmenopausal Koreans

Lee

Kim

et al. 2009

Osteoporos Int

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“…13 However, people with CF continue to have a reduced life expectancy and a significant burden of disease management, and many develop symptoms of other diseases, such as diabetes and osteoporosis, at a younger age than normal. [14][15][16][17] In recent years, there has been an effort to find drugs and treatments that target the cause of CF rather than its symptoms. Several groups have discovered small molecules that enhance F508del CFTR trafficking to the membrane (correctors) or increase its opening probability (potentiators), [18][19][20][21][22][23][24][25][26][27][28][29] and some of these have advanced to clinical trials to evaluate their safety and efficacy for treating CF.…”

Section: Introductionmentioning

confidence: 99%

Identification of Synergistic Combinations of F508del Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators

Lin¹,

Sui

Cotard³

et al. 2010

ASSAY and Drug Development Technologies

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Cystic fibrosis (CF) is an inherited, life-threatening disease caused by mutations in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR), an ABC transporter-class protein and ion channel that transports ions across epithelial cell membranes. The most common mutation leads to the deletion of a single phenylalanine, and the resulting protein, F508del-CFTR, shows reduced trafficking to the membrane and defective channel gating. The ideal therapeutic approach would address both of these defects and restore channel function at the same time. We describe here the application of a combination high-throughput screening to search for synergistic modulators of F508del-CFTR. With the adapted Fischer rat thyroid-yellow fluorescent protein halide flux assay to the combination high-throughput screening platform, we identified many interesting single agents as CFTR modulators from a library of approved drugs and mechanistic probe compounds, and combinations that synergistically modulate F508del-CFTR channel function in Fischer rat thyroid cells, demonstrating the potential for combination therapeutics to address the defects that cause CF.

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“…However, this fact has not resulted in quality of life because different comorbidities have been observed in adulthood. Disturbances in bone metabolism, particularly significant reductions in bone mineral density (BMD), are recognized as additional and serious complications in these CF patients, with prevalence ranging from 40% to 70% 2 , 3 . The low BMD found in these patients is multifactorial and many factors have been suggested as explanation 4 - 10 .…”

Section: Introductionmentioning

confidence: 99%

The role of daily physical activity and nutritional status on bone turnover in cystic fibrosis: a cross-sectional study

Tejero¹,

Quintana‐Gallego²,

Sañudo³

et al. 2016

Braz. J. Phys. Ther.

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BackgroundNutritional status and daily physical activity (PA) may be an excellent tool for the maintenance of bone health in patients with cystic fibrosis (CF).ObjectiveTo evaluate the relationship between nutritional status, daily physical activity and bone turnover in cystic fibrosis patients.MethodA cross-sectional study of adolescent and adult patients diagnosed with clinically stable cystic fibrosis was conducted. Total body, femoral neck, and lumbar spine bone mineral density (BMD) were determined by dual energy X-ray absorptiometry and bone metabolism markers ALP, P1NP, PICP, and ß-CrossLaps. PA monitoring was assessed for 5 consecutive days using a portable device. Exercise capacity was also determined. Serum 25-hydroxyvitamin D and vitamin K were also determined in all participants.ResultsFifty patients (median age: 24.4 years; range: 16-46) were included. BMI had positive correlation with all BMD parameters, with Spearman’s coefficients ranging from 0.31 to 0.47. Total hip bone mineral density and femoral neck BMD had positive correlation with the daily time spent on moderate PA (>4.8 metabolic equivalent-minutes/day; r=0.74, p<0.001 and r=0.72 p<0.001 respectively), daily time spent on vigorous PA (>7.2 metabolic equivalent-minutes/day; r=0.45 p<0.001), body mass index (r=0.44, p=0.001), and muscle mass in limbs (r=0.41, p=0.004). Levels of carboxy-terminal propeptide of type 1 collagen were positively associated with the daily time spent on moderate (r=0.33 p=0.023) and vigorous PA (r=0.53, p<0.001).ConclusionsBMI and the daily time spent on moderate PA were found to be correlated with femoral neck BMD in CF patients. The association between daily PA and biochemical markers of bone formation suggests that the level of daily PA may be linked to bone health in this patient group. Further research is needed to confirm these findings.

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The genetic background of osteoporosis in cystic fibrosis: Association analysis with polymorphic markers in four candidate genes

Abstract: There was no evidence that the genes under study, with the possible exception of ESR1 gene variants, may modulate bone phenotype in CF.

Cited by 12 publications

References 46 publications

Fracture, bone mineral density, and the effects of calcitonin receptor gene in postmenopausal Koreans

Fracture, bone mineral density, and the effects of calcitonin receptor gene in postmenopausal Koreans

Identification of Synergistic Combinations of F508del Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators

The role of daily physical activity and nutritional status on bone turnover in cystic fibrosis: a cross-sectional study

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