Search

Your search keyword '"Mello, Enrica"' showing total 4 results
Start Over Author "Mello, Enrica" Topic complement factor h
4 results on '"Mello, Enrica"'

1. Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients.

Author

Capoluongo E, Concolino P, Piccardi M, Marangoni D, Mello E, Minnella AM, Savastano C, Fadda A, Zuppi C, Bisti S, and Falsini B

Subjects
Age Distribution, Aged, Aged, 80 and over, Female, Genetic Markers genetics, Genetic Variation genetics, Humans, Italy epidemiology, Male, Middle Aged, Pilot Projects, Polymorphism, Single Nucleotide genetics, Prevalence, Risk Factors, Complement Factor H genetics, Genetic Predisposition to Disease epidemiology, Genetic Predisposition to Disease genetics, Macular Degeneration epidemiology, Macular Degeneration genetics, Polymorphism, Genetic, Proteins genetics
Abstract

Two major susceptibility genes, complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2), have been implicated in age-related macular degeneration (AMD) pathogenesis. We analyzed the association between CFH rs1061170 and/or ARMS2 rs10490924 polymorphisms with central retinal function properties, as evaluated by focal electroretinogram (fERG). Forty early AMD patients, with preserved visual acuity and typical macular lesions, underwent fERG recording (in response to 41 Hz flicker stimuli presented to the central 18 degrees) and CFH/ARMS2 genotyping. Mean fERG amplitude and sensitivity decreased in patients carrying CFH rs1061170 polymorphism (p < 0.01), compared with wild type ones, although visual acuity and funduscopic features were similar across the 2 groups. No significant fERG phase changes were observed. No association was detected between ARMS2 (rs10490924) polymorphism and fERG parameters. Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on retinal function in early AMD patients, and support the hypothesis that dysfunctional CFH might result in early retinal function loss due to a reduction in the immune antioxidant defense mechanism., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Published
2012
Full Text
View/download PDF

2. Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneration using high-resolution melting analysis.

Author

Mello E, Falsini B, Zuppi C, Giardina B, Concolino P, and Capoluongo E

Subjects
Humans, Nucleic Acid Denaturation, Time Factors, Complement Factor H genetics, Genotyping Techniques methods, Macular Degeneration genetics, Polymorphism, Single Nucleotide genetics, Transition Temperature
Abstract

Background: Age-related macular degeneration (AMD) is a complex disorder causing irreversible central vision loss. Complement Factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) are now widely accepted as important AMD susceptibility genes. In particular, two specific variants, CFH p.Y402H and ARMS2 p.A69S, have been reported as strongly AMD associated. In order to perform the genetic screening of these single nucleotide polymorphisms (SNPs), we describe a high resolution melting analysis (HRM) as a rapid closed tube mutation scanning assay., Methods: To validate HRM genotyping, 94 DNA samples from AMD patients (previously genotyped by sequence analysis) were analyzed. PCR amplification and melting curve analysis were performed in the LightCycler 480 Real-Time PCR System. In order to evaluate the accuracy of the HRM assay, we performed a blinded study of 20 unknown independent samples., Results: We correctly genotyped all samples. In fact, all samples corresponded to the previous genotype assignments., Conclusions: Early identification of individuals with genetic risk variants CFH p.Y402H and ARMS2 p.A69S is clinically important for the definition of AMD status. High-resolution DNA melting is homogenous, accurate and rapid method for CFH and ARMS2 genotyping.

Published
2012
Full Text
View/download PDF

3. Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report

Author

Benedetto Falsini, Enrica Mello, Antonello Fadda, Dario Marangoni, Marco Piccardi, Lucia Ambrosio, Rita Maccarone, Maria Cristina Savastano, Paola Concolino, Silvia Bisti, Ettore Capoluongo, Angelo Maria Minnella, Marangoni, Dario, Falsini, Benedetto, Piccardi, Marco, Ambrosio, Lucia, Minnella Angelo, Maria, Savastano Maria, Cristina, Bisti, Silvia, Maccarone, Rita, Fadda, Antonello, Mello, Enrica, Concolino, Paola, Capoluongo, E, Falsini, B, Piccardi, M, Ambrosio, L, Minnella, Am, Savastano, Mc, Fadda, A, Mello, E, Concolino, P, and Capoluongo, E.

Subjects
Male, AMD, Gastroenterology, Macular Degeneration, Polymorphism (computer science), Risk Factors, Age-related macular degeneration, Saffron, Gene polymorphism, Electroretinography, genetics, Crocus, Aged, 80 and over, Medicine(all), medicine.diagnostic_test, biology, Settore MED/30 - MALATTIE APPARATO VISIVO, Gene polymorphism, General Medicine, Middle Aged, Saffron, antioxidants, neuroprotection, risk genotype, Factor H, Complement Factor H, Female, medicine.medical_specialty, Heterozygote, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Internal medicine, Ophthalmology, medicine, Electroretinography, Humans, Genetic Predisposition to Disease, Aged, Demography, Plant Extracts, Biochemistry, Genetics and Molecular Biology(all), Research, Age-related macular degeneration, Proteins, Macular degeneration, medicine.disease, biology.organism_classification, electrophysiology, Age related maculopathy, eye diseases, Age-related maculopathy, Dietary Supplements, Maculopathy, sense organs
Abstract

Background To determine whether the functional effects of oral supplementation with Saffron, a natural compound that proved to be neuroprotective in early age-related macular degeneration, are influenced by complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) risk genotypes. Methods Thirty-three early AMD patients, screened for CFH (rs1061170) and ARMS2 (rs10490924) polymorphisms and receiving Saffron oral supplementation (20 mg/day) over an average period of treatment of 11 months (range, 6–12), were longitudinally evaluated by clinical examination and focal electroretinogram (fERG)-derived macular (18°) flicker sensitivity estimate. fERG amplitude and macular sensitivity, the reciprocal value of the estimated fERG amplitude threshold, were the main outcome measures. Results After three months of supplementation, mean fERG amplitude and fERG sensitivity improved significantly when compared to baseline values (p < 0.01). These changes were stable throughout the follow-up period. No significant differences in clinical and fERG improvements were observed across different CFH or ARMS2 genotypes. Conclusions The present results indicate that the functional effect of Saffron supplementation in individual AMD patients is not related to the major risk genotypes of disease.

Published
2013

4. Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients

Author

Dario Marangoni, Ettore Capoluongo, Enrica Mello, Cecilia Zuppi, Silvia Bisti, Angelo Maria Minnella, Paola Concolino, Antonello Fadda, Cristina Maria Savastano, Benedetto Falsini, Marco Piccardi, Capoluongo, E, Concolino, P, Piccardi, M, Marangoni, D, Mello, E, Minnella, Am, Savastano, C, Fadda, A, Zuppi, C, Bisti, S, Falsini, B, Marangoni, Dario, Bisti, Silvia, Falsini, B., Capoluongo, Ettore, Concolino, Paola, Piccardi, Marco, Mello, Enrica, Minnella Angelo, Maria, Savastano, Cristina, Fadda, Antonello, Zuppi, Cecilia, and Falsini, Benedetto

Subjects
Male, Aging, Visual acuity, genetic structures, Pilot Projects, AMD, Pathogenesis, Macular Degeneration, Settore BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA, Risk Factors, Prevalence, 80 and over, retinal function, complement H, Aged, 80 and over, medicine.diagnostic_test, General Neuroscience, Settore MED/30 - MALATTIE APPARATO VISIVO, Single Nucleotide, Middle Aged, Macular Lesion, Italy, Factor H, Complement Factor H, CFH, Female, medicine.symptom, Genetic Markers, medicine.medical_specialty, Biology, Polymorphism, Single Nucleotide, Age Distribution, Genetic, Ophthalmology, medicine, Humans, Genetic Predisposition to Disease, Polymorphism, Genotyping, Aged, Polymorphism, Genetic, Genetic Variation, Proteins, Macular degeneration, medicine.disease, eye diseases, Maculopathy, sense organs, Neurology (clinical), Geriatrics and Gerontology, Developmental Biology, Electroretinography
Abstract

""Two major susceptibility genes, complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2), have been. implicated in age-related macular degeneration (AMD) pathogenesis. We analyzed the association between CFH rs1061170 and\\\/or ARMS2. rs10490924 polymorphisms with central retinal function properties, as evaluated by focal electroretinogram (fERG). Forty early AMD. patients, with preserved visual acuity and typical macular lesions, underwent fERG recording (in response to 41 Hz flicker stimuli presented. to the central 18 degrees) and CFH\\\/ARMS2 genotyping. Mean fERG amplitude and sensitivity decreased in patients carrying CFH. rs1061170 polymorphism (p 0.01), compared with wild type ones, although visual acuity and funduscopic features were similar across. the 2 groups. No significant fERG phase changes were observed. No association was detected between ARMS2 (rs10490924) polymorphism. and fERG parameters. Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on retinal function in early AMD. patients, and support the hypothesis that dysfunctional CFH might result in early retinal function loss due to a reduction in the immune. antioxidant defense mechanism.. © 2012 Elsevier Inc. All rights reserved.. Keywords: Age-related macular degeneration; Complement factor H; Early diagnosis; Electroretinography; Flicker sensitivity; Gene polymorphisms""

Published
2012

Catalog

Books, media, physical & digital resources
See catalog results