SciELO - Scientific Electronic Library Online

 
vol.20 issue3Molecular epidemiology of the measles virus in the Region of the Americas: current overviewCOVID-19 from the primary prevention perspective author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO

Share


Revista de la Facultad de Medicina Humana

Print version ISSN 1814-5469On-line version ISSN 2308-0531

Abstract

QUEZADA, Gabriela et al. Sturge Weber Syndrome, classic triad from a genetic, molecular and physiological approach. Rev. Fac. Med. Hum. [online]. 2020, vol.20, n.3, pp.489-493. ISSN 1814-5469.  http://dx.doi.org/10.25176/rfmh.v20i3.2974.

Sturge Weber syndrome (SSW) is characterized by the classic involvement of sporadic neuro-oculo-cutaneous vascular malformations, the pathophysiology of which to date has not been fully elucidated.

The discovery of both an arterial and venous molecular profile in the endothelium present in vascular malformations, together with vascular atresia zones distal to the ectasic zones, have led to questioning the embryological theories put forward for decades, to explore the molecular and genetic characteristics in the affected tissue.

Currently, a high prevalence of somatic mutation in the GNAQ gene has been reported in the affected tissues of patients with SSW, which encodes an alpha subunit of a Gq protein, whose signaling cascade stimulates cell proliferation, which may be responsible of the sustained growth of malformations in the three mentioned regions. The present study aims to explain the classic clinical manifestations of SSW from a genetic, molecular and pathophysiological perspective.

Keywords : Sturge-Weber Syndrome; Genetics; physiopathology. (Source: MEDLINE MeSH).

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )