Myositis with mitochondrial pathology: a multicentric case series

Antonio Lauletta

Myositis with mitochondrial pathology: a multicentric case series

Autori

ANTONIO LAULETTA (NEUROMUSCULAR DISEASE CENTRE, DEPARTMENT OF NEUROSCIENCE, MENTAL HEALTH AND SENSORY ORGANS (NESMOS), SAPIENZA UNIVERSITY OF ROME, SANT’ANDREA HOSPITAL, ROME, ITALY – NEUROLOGIST)
LUCA BOSCO (INSTITUTE OF EXPERIMENTAL NEUROLOGY AND DIVISION OF NEUROSCIENCE, ISTITUTO DI RICERCA E CURA A CARATTERE SCIENTIFICO (IRCCS) OSPEDALE SAN RAFFAELE, MILAN, ITALY – NEUROLOGIST)
GIOIA MERLONGHI (NEUROMUSCULAR DISEASE CENTRE, DEPARTMENT OF NEUROSCIENCE, MENTAL HEALTH AND SENSORY ORGANS (NESMOS), SAPIENZA UNIVERSITY OF ROME, SANT’ANDREA HOSPITAL, ROME, ITALY – MSC BIOLOGICAL SCIENCES)
YURI MATTEO FALZONE (INSTITUTE OF EXPERIMENTAL NEUROLOGY AND DIVISION OF NEUROSCIENCE, ISTITUTO DI RICERCA E CURA A CARATTERE SCIENTIFICO (IRCCS) OSPEDALE SAN RAFFAELE, MILAN, ITALY – NEUROLOGIST)
MARTA CHELI (NEUROIMMUNOLOGY AND NEUROMUSCULAR DISEASE UNIT, FOUNDATION IRCCS CARLO BESTA NEUROLOGICAL INSTITUTE, MILAN, ITALY – NEUROLOGIST)
ROBERTA PIERA BENCIVENGA (DEPARTMENT OF NEUROSCIENCE, REPRODUCTIVE AND ODONTOSTOMATOLOGICAL SCIENCE, UNIVERSITY OF NAPLES “”FEDERICO II””, NAPLES, ITALY – NEUROLOGIST)
SARAH LEONARD-LOUIS () SERVICE DE NEUROMYOLOGIE, GH PITIÉ-SALPÊTRIÈRE, UNIVERSITY HOSPITAL, 75013, PARIS, FRANCE – NEUROLOGIST)
OLIVIER BENVENISTE (SORBONNE UNIVERSITÉ, ASSISTANCE PUBLIQUE – HÔPITAUX DE PARIS, INSERM U974, DEPARTMENT OF INTERNAL MEDICINE AND CLINICAL IMMUNOLOGY, PITIÉ-SALPÊTRIÈRE UNIVERSITY HOSPITAL, PARIS, FRANCE – INTERNAL MEDICINE)
LUCIA RUGGERO (DEPARTMENT OF NEUROSCIENCE, REPRODUCTIVE AND ODONTOSTOMATOLOGICAL SCIENCE, UNIVERSITY OF NAPLES “”FEDERICO II””, NAPLES, ITALY – NEUROLOGIST)
LORENZO MAGGI (NEUROIMMUNOLOGY AND NEUROMUSCULAR DISEASE UNIT, FOUNDATION IRCCS CARLO BESTA NEUROLOGICAL INSTITUTE, MILAN, ITALY – NEUROLOGIST)
STEFANO PREVITALI (INSTITUTE OF EXPERIMENTAL NEUROLOGY AND DIVISION OF NEUROSCIENCE, ISTITUTO DI RICERCA E CURA A CARATTERE SCIENTIFICO (IRCCS) OSPEDALE SAN RAFFAELE, MILAN, ITALY – NEUROLOGIST)
MATTEO GARIBALDI (NEUROMUSCULAR DISEASE CENTRE, DEPARTMENT OF NEUROSCIENCE, MENTAL HEALTH AND SENSORY ORGANS (NESMOS), SAPIENZA UNIVERSITY OF ROME, SANT’ANDREA HOSPITAL, ROME, ITALY – NEUROLOGIST)

Presentatore

ANTONIO LAULETTA (NEUROMUSCULAR DISEASE CENTRE, DEPARTMENT OF NEUROSCIENCE, MENTAL HEALTH AND SENSORY ORGANS (NESMOS), SAPIENZA UNIVERSITY OF ROME, SANT’ANDREA HOSPITAL, ROME, ITALY)

Modalità

Oral Communication

Abstract

“Introduction: Mitochondrial alterations represent a common finding in muscle biopsy of sporadic inclusion body myositis (s-IBM) and in polymyositis with mitochondrial pathology (PM-Mito), although they have been occasionally reported in dermatomyositis (DM) and immune-mediated necrotizing myopathy (IMNM). However, while DM and IMNM usually show good treatment response, PM-Mito and s-IBM present a variable clinical course and poor response to therapies.
The prevalence and significance of mitochondrial pathology in non-IBM myositis has not been deeply investigated, particularly if it could be a reliable marker of progression to IBM from PM-Mito and/or an index of treatment unresponsiveness and worse clinical outcome.
Methods: We reviewed clinical and histopathological data from 22 patients, followed in 4 Italian and 1 French institutions, who presented with clinical and histological diagnosis of myositis showing COX-negative fibers at muscle biopsy.
Results: 16 patients [72,7%] were women; mean age was 65.7 years [range 39-78 years]. 4 patients had IMNM, 2 DM, 10 non-specific myositis (NSM), 6 Overlap myositis (OM). The mean number of COX-negative fibers was 3.5%. Mean age at muscle biopsy was 62,3 years. Only 5 patients [22,7 %] showed a complete recovery after treatment while the others had variable residual weakness. Treatment refractory and worst clinical outcome were observed in patients with higher percentage of COX-negative fibers.
Conclusions: These findings suggest that skeletal muscle mitochondrial pathology might represent a marker of disease severity and predictor of worse treatment response in non-IBM myositis.”