title: Mitochondrial m.3243A > G mutation and carotid artery dissection.
abstract: The common m.3243A > G mutation of the mitochondrial DNA tRNALeu (UUR) gene is a maternally inherited mutation causing a wide spectrum of neurological and multisystemic disorders, including MELAS, characterized by recurrent cerebral infarction from young age. Vascular pathology in mitochondrial diseases has been described for small vessels, while large vessels involvement in mitochondrial diseases is considered rare. Here we report two female patients harboring the m.3243A > G mutation, in whom the diagnosis of mitochondrial disease was made after acute dissection of the internal carotid arteries. Our cases expand the clinical spectrum of this mutation, and support the idea of large vessels vasculopathy due to impaired mitochondrial function in the vessel wall that may lead to arterial wall weakness. Thus, stroke in mitochondrial diseases could also be related to large vessels disease, but further studies are strongly needed. Moreover, mitochondrial aetiology should be kept in mind in patients with large vessel dissection, especially in those with additional mitochondrial red flags.
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy.
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Montano
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Orsucci
authors.affiliation: Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology - IRCCS Milan, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Peverelli
authors.affiliation: Unit of Neurovascular diseases, The Foundation "Carlo Besta" Institute of Neurology - IRCCS, Milan, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Caputi
authors.affiliation: Department of Neurology, L. Sacco Hospital, University of Milan, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Gambaro
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.affiliation: Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology - IRCCS Milan, Italy.
authors.forename: Costanza
authors.initials: C
authors.lastname: Lamperti
keywords: Cervical artery dissection; MELAS; Mitochondrial diseases; Stroke; m.3243A > G mutation; mtDNA