Evaluation of non-invasive biological sources for assessing methylation levels of FSHD-associated locus

Elenco Abstract

Claudia Strafella

Evaluation of non-invasive biological sources for assessing methylation levels of FSHD-associated locus

Autori

CLAUDIA STRAFELLA (GENOMIC MEDICINE LABORATORY UILDM, IRCCS SANTA LUCIA FOUNDATION, ROME, ITALY – MEDICAL GENETICS)
DOMENICA MEGALIZZI (GENOMIC MEDICINE LABORATORY UILDM, IRCCS SANTA LUCIA FOUNDATION; MEDICAL GENETICS LABORATORY, DEPARTMENT OF BIOMEDICINE AND PREVENTION, TOR VERGATA UNIVERSITY, ROME, ITALY – MEDICAL GENETICS)
GIULIA TRASTULLI (GENOMIC MEDICINE LABORATORY UILDM, IRCCS SANTA LUCIA FOUNDATION; MEDICAL GENETICS LABORATORY, DEPARTMENT OF BIOMEDICINE AND PREVENTION, TOR VERGATA UNIVERSITY, ROME, ITALY – MEDICAL GENETICS)
EMMA PROIETTI PIORGO (GENOMIC MEDICINE LABORATORY UILDM, IRCCS SANTA LUCIA FOUNDATION, ROME, ITALY – MEDICAL GENETICS)
LUCA COLANTONI (GENOMIC MEDICINE LABORATORY UILDM, IRCCS SANTA LUCIA FOUNDATION, ROME, ITALY – MEDICAL GENETICS)
RAFFAELLA CASCELLA (GENOMIC MEDICINE LABORATORY UILDM, IRCCS SANTA LUCIA FOUNDATION, ROME, ITALY; DEPARTMENT OF BIOMEDICAL SCIENCES, CATHOLIC UNIVERSITY OUR LADY OF GOOD COUNSEL, TIRANA, ALBANIA – MEDICAL GENETICS)
FRANCESCA TORRI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF PISA, PISA, ITALY – NEUROLOGY)
BEATRICE CIURLI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF PISA, PISA, ITALY – BIOLOGIST)
BARBARA RISI (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – NEUROLOGY)
FILOMENA CARIA (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – NEUROLOGY)
SIMONA DAMIOLI (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – NEUROLOGY)
MATTEO GARIBALDI (NEUROMUSCULAR AND RARE DISEASE CENTRE, DEPARTMENT OF NEUROSCIENCE, MENTAL HEALTH AND SENSORY ORGANS (NESMOS), SANT’ANDREA HOSPITAL, ROME, ITALY – NEUROLOGY)
MARINA GRANDIS (NEUROLOGY UNIT, IRCCS SAN MARTINO HOSPITAL, GENOA, ITALY – NEUROLOGY)
ANTONIO PETRUCCI (DEPARTMENT OF NEUROSCIENCE, SAN CAMILLO-FORLANINI HOSPITAL, ROME, ITALY – NEUROLOGY)
CARMELO RODOLICO (NEUROLOGY AND NEUROMUSCULAR DISORDERS UNIT, DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF MESSINA, MESSINA, ITALY – NEUROLOGY)
ANTONIO DI MUZIO (CENTER FOR NEUROMUSCULAR DISEASE, CESI, UNIVERSITY “”G. D’ANNUNZIO””, CHIETI, ITALY – NEUROLOGY)
STEFANO PREVITALI (NEUROMUSCULAR REPAIR UNIT, INSTITUTE OF EXPERIMENTAL NEUROLOGY (INSPE), DIVISION OF NEUROSCIENCE, IRCCS OSPEDALE SAN RAFFAELE, 20132 MILAN, ITALY – NEUROLOGY)
MAURO MONFORTE (UNITÀ OPERATIVA COMPLESSA DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCCS, ROME ITALY – NEUROLOGY)
TIZIANA ENRICA MONGINI (DEPARTMENT OF NEUROSCIENCES RITA LEVI MONTALCINI, UNIVERSITY OF TURIN, TURIN, ITALY – NEUROLOGY)
LILIANA VERCELLI (DEPARTMENT OF NEUROSCIENCES RITA LEVI MONTALCINI, UNIVERSITY OF TURIN, TURIN, ITALY – NEUROLOGY)
VALERIA SANSONE (NEUROREHABILITATION UNIT, NEUROMUSCULAR OMNICENTRE CLINICAL CENTER, NIGUARDA HOSPITAL, MILAN, ITALY – NEUROLOGY)
PAOLA MANDICH (NEUROLOGY UNIT, IRCCS SAN MARTINO HOSPITAL, GENOA, ITALY – MEDICAL GENETICS)
MARIA ANTONIETTA MAIOLI (OSPEDALE BINAGHI, CAGLIARI, ITALY – NEUROLOGY)
LUISA POLITANO (CARDIOMYOLOGY AND MEDICAL GENETICS UNIT, UNIVERSITY HOSPITAL “”L VANVITELLI””, NAPOLI, ITALY – CARDIOLOGY AND MEDICAL GENETICS)
MARIANNA SCUTIFERO (CARDIOMYOLOGY AND MEDICAL GENETICS UNIT, UNIVERSITY HOSPITAL “”L VANVITELLI””, NAPOLI, ITALY – CARDIOLOGY AND MEDICAL GENETICS)
ELENA MARIA PENNISI (UNIT OF NEUROMUSCULAR DISORDERS, NEUROLOGY, SAN FILIPPO NERI HOSPITAL, ROME, ITALY – NEUROLOGY)
CARLO CASALI (DEPARTMENT OF MEDICAL AND SURGICAL SCIENCES AND BIOTECHNOLOGIES, SAPIENZA UNIVERSITY OF ROME, ROME, ITALY – NEUROLOGY)
ENZO RICCI (UNITÀ OPERATIVA COMPLESSA DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO A. GEMELLI IRCCS, ROME ITALY – NEUROLOGY)
GUIDO PRIMIANO (NEUROFISIOPATHOLOGY UNIT, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY – NEUROLOGY)
CRISTINA SANCRICCA (NEUROFISIOPATHOLOGY UNIT, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY – NEUROLOGY)
CARLO CALTAGIRONE (DEPARTMENT OF CLINICAL AND BEHAVIORAL NEUROLOGY, IRCCS FONDAZIONE SANTA LUCIA, ROME, ITALY – NEUROLOGY)
GIULIA RICCI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF PISA, PISA, ITALY – NEUROLOGY)
GABRIELE SICILIANO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF PISA, PISA, ITALY – NEUROLOGY)
MASSIMILIANO FILOSTO (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – NEUROLOGY)
EMILIANO GIARDINA (GENOMIC MEDICINE LABORATORY UILDM, IRCCS SANTA LUCIA FOUNDATION; MEDICAL GENETICS LABORATORY, DEPARTMENT OF BIOMEDICINE AND PREVENTION, TOR VERGATA UNIVERSITY, ROME, ITALY – MEDICAL GENETICS)
ITALIAN CLINICAL GROUP FOR FSHD (ITALIAN CLINICAL GROUP FOR FSHD – )

Presentatore

CLAUDIA STRAFELLA

Modalità

Oral Communication

Abstract

“The selection of the primary source of DNA is crucial to ensure high-quality and reliable results of the molecular assays. Moreover, the low invasiveness and ease of the sampling procedure are highly desirable in supporting the participation of the patient in his own diagnostic pathway. The study aimed at evaluating the integrity and stability of saliva and buccal swabs, to be applied as primary DNA sources for assessing the presence of methylation levels compatible with Facio-Scapulo-Humeral Dystrophy (FSHD). Methylation levels of 60 DNA samples derived from different biological sources (saliva, blood and buccal swab) were assessed in the present study. In particular, DNA was extracted at two time points: Tₒ and Tₗ (namely upon sample collection and ten days after, respectively). Each DNA sample extracted from the three different sources was simultaneously treated with bisulfite conversion and sequenced by capillary electrophoresis to quantitatively evaluate methylation levels.
The comparison of results obtained from different biological sources revealed no inter-specimen variability within each patient regarding methylation levels, sequencing quality, and data reliability. Such a result was equally valid at Tₒ and Tₗ, suggesting the employment of biological sources alternative to blood for assessing methylation levels in FSHD patients. These results are paramount considering the difficulties related to FSHD diagnosis in developing countries and the need for affordable and rapid tests. Although this study needs to be validated in larger cohorts, it encourages the employment of non-invasive DNA biological sources to promote FSHD characterization in worldwide populations.”