Neural Regeneration Research ›› 2022, Vol. 17 ›› Issue (1): 101-102.doi: 10.4103/1673-5374.314296

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Investigating the role of imprinted genes in pediatric sporadic brain arteriovenous malformations

Concetta Scimone, Luigi Donato*, Antonina Sidoti   

  1. Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, Messina, Italy
  • Online:2022-01-05 Published:2021-09-18
  • Contact: Luigi Donato, PhD, ldonato@unime.it.

Abstract: Arteriovenous malformation (AVM) is a vascular congenital defect affecting microvasculature of both brain and peripheral organs. Arteriovenous malformation of the brain (bAVM, OMIM #108010), in particular, affects up to 15 per 100,000 persons with no sex predominance. Almost 50% of the patients manifest intracerebral hemorrhage and epileptic seizures, as main clinical symptoms. Anatomically, lesions exhibit the direct shunt from arterioles to venules, lacking the normal capillary bed. Arterioles and venules are curled forming a tangle called nidus. At the nidus, pericytes are reduced. Feeding arteries and draining veins show impaired expression of vessel differentiation markers. These features result in loss of endothelial cells properties and increased permeability of the affected vessels. The high pressure of blood perfusing from arteries to the nidus increases risk of lesion rupture, resulting in intracerebral hemorrhage. Moreover, at the nidus, arterial and venous blood mixes, altering the normal oxygenation of the central nervous system (Barbosa Do Prado et al., 2019).