GUIDO PRIMIANO
Serum neurofilament light chain in mitochondrial diseases: exploring a new promising biomarker.
Autori
- GUIDO PRIMIANO (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – NEUROLOGIA)
- ANGELA ROMANO (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – NEUROLOGIA)
- MARCO LUIGETTI (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – NEUROLOGIA)
- ANDREA SABINO (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – BIOOLOGIA)
- MICHELANGELO MANCUSO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, NEUROLOGICAL INSTITUTE, UNIVERSITY OF PISA, PISA, ITALY. – NEUROLOGIA)
- PIERVITO LOPRIORE (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, NEUROLOGICAL INSTITUTE, UNIVERSITY OF PISA, PISA, ITALY. – NEUROLOGIA)
- VINCENZO MONTANO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, NEUROLOGICAL INSTITUTE, UNIVERSITY OF PISA, PISA, ITALY. – NEUROLOGIA)
- VALERIO CARELLI (DEPARTMENT OF BIOMEDICAL AND NEUROMOTOR SCIENCES (DIBINEM), ALMA MATER STUDIORUM – UNIVERSITY OF BOLOGNA, ITALY. – NEUROLOGIA)
- CHIARA LA MORGIA (DEPARTMENT OF BIOMEDICAL AND NEUROMOTOR SCIENCES (DIBINEM), ALMA MATER STUDIORUM – UNIVERSITY OF BOLOGNA, ITALY. – NEUROLOGIA)
- MARIA LUCIA VALENTINO (DEPARTMENT OF BIOMEDICAL AND NEUROMOTOR SCIENCES (DIBINEM), ALMA MATER STUDIORUM – UNIVERSITY OF BOLOGNA, ITALY. – NEUROLOGIA)
- COSTANZA LAMPERTI (UNIT OF MEDICAL GENETICS AND NEUROGENETICS, FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO BESTA, MILAN, ITALY. – NEUROLOGIA)
- VALERIA NICOLETTA (UNIT OF MEDICAL GENETICS AND NEUROGENETICS, FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO BESTA, MILAN, ITALY. – BIOLOGIA)
- ALESSIA CATANIA (UNIT OF MEDICAL GENETICS AND NEUROGENETICS, FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO BESTA, MILAN, ITALY. – NEUROLOGIA)
- MASSIMILIANO FILOSTO (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY. – NEUROLOGIA)
- BARBARA RISI (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY. – NEUROLOGIA)
- CRISTINA SANCRICCA (FONDAZIONE UILDM LAZIO ONLUS, ROME, ITALY. – NEUROLOGIA)
- DOMENICO PLANTONE (DEPARTMENT OF MEDICINE, SURGERY AND NEUROSCIENCE, UNIVERSITY OF SIENA, SIENA, ITALY. – NEUROLOGIA)
- SERENELLA SERVIDEI (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – NEUROLOGIA)
Presentatore
GUIDO PRIMIANO (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY.)
Modalità
Oral Communication
Abstract
“Introduction. The extraordinary phenotypic and genetic heterogeneity characterizing primary mitochondrial diseases (PMDs) represents a challenge in the identification of reliable disease biomarkers. Current evidence allows us to consider FGF21 and GDF15 as diagnostic indicators for muscle-manifesting patients. Therefore, there is a clear need for a valuable biomarker for the subjects affected by these neurometabolic disorders characterized by a prevalent involvement of the nervous system, including its use in future clinical trials.
In this study, we aimed to determine serum neurofilament light chain (sNfL) levels in PMDs and evaluate whether it might represent a reliable disease biomarker.
Methods. Blood samples were consecutively collected from 99 adult patients with a defined mitochondrial disease. Ella™ apparatus was used to assess sNfL levels.
Results. sNfL levels were increased in PMDs compared to healthy controls (median 26.4 pg/mL in PMDs; median 15.4 pg/mL in HCs; p< 0.001). When sub-classifying the PMDs, we documented increased serum levels of NfL in patients with mtDNA point variants (m.3243A>G and m.8344A>G) not only in comparison with the healthy group but also with PMD genotypes usually characterized by a predominant skeletal muscle involvement (median values in point mutations and single or multiple deletions groups: 40.4 and 18.2 pg/mL, respectively; p< 0.001).
Conclusion. sNfL seems to be a promising biomarker in PMDs with nervous system involvement and might become a reliable measure of disease severity. Longitudinal studies are needed to confirm such a role and determine whether it could equally represent a biomarker of disease progression and response to therapy.”