TY - JOUR
T1 - Mitochondrial m.3243A > G mutation and carotid artery dissection
AU - Mancuso, Michelangelo
AU - Montano, Vincenzo
AU - Orsucci, Daniele
AU - Peverelli, Lorenzo
AU - Caputi, Luigi
AU - Gambaro, Paola
AU - Siciliano, Gabriele
AU - Lamperti, Costanza
PY - 2016/12/1
Y1 - 2016/12/1
N2 - 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.
AB - 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.
KW - Cervical artery dissection
KW - m.3243A > G mutation
KW - MELAS
KW - Mitochondrial diseases
KW - mtDNA
KW - Stroke
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UR - http://www.scopus.com/inward/citedby.url?scp=84984839697&partnerID=8YFLogxK
U2 - 10.1016/j.ymgmr.2016.08.010
DO - 10.1016/j.ymgmr.2016.08.010
M3 - Article
AN - SCOPUS:84984839697
VL - 9
SP - 12
EP - 14
JO - Molecular Genetics and Metabolism Reports
JF - Molecular Genetics and Metabolism Reports
SN - 2214-4269
ER -