Encontro Scientia Online: Disease Mechanisms in LAMA2-CMD: Knowns and Unknowns - Ana Rita Carlos

Описание: Os Encontros Scientia estão de regresso, agora em formato online!

A 28 de maio recebemos às 12h00 (hora de Lisboa) no nosso canal YouTube a investigadora Ana Rita Carlos (cE3c-FCUL), com a apresentação "Disease Mechanisms in LAMA2-CMD: Knowns and Unknowns".

Ana Rita Carlos é investigadora do grupo “Development and Evolutionary Morphogenesis – DEM” do cE3c, na FCUL. Foi uma das distinguidas este ano com uma Medalha de Honra L’Oréal Portugal, pela sua investigação sobre os mecanismos que desencadeiam distrofias musculares congénitas e, em particular, a distrofia muscular merosina-negativa (MDC1A) – uma doença rara mas, entre as distrofias musculares congénitas, uma das mais frequentes.

Disease Mechanisms in LAMA2-CMD: Knowns and Unknowns:
Congenital diseases are conditions present at or before birth and which can have environmental and/or genetic causes. Merosin-deficient congenital muscular dystrophy type 1A (LAMA2-CMD or MDC1A) is the most common congenital muscular dystrophy. This disease is triggered by mutations in the LAMA2 gene, coding for laminin alpha-2 chain, a structural component of the extracellular matrix (ECM). Moreover, several muscle dystrophies are directly associated with mutations in ECM components or in components that bridge the ECM and the cell’s cytoskeleton, highlighting the importance of understanding ECM structure and roles in order to fully comprehend what separates tissue homeostasis from disease.
The Development and Evolutionary Morphogenesis laboratory has recently uncovered that the onset of LAMA2-CMD occurs already in utero and is associated with a reduction in the muscle stem cell pool, as well as, a reduction in muscle growth, but how this onset is triggered remains to be determined. Several mechanisms have been found to be activated or dysfunctional in LAMA2-CMD, including inflammation, fibrosis, apoptosis and cell metabolism. But which mechanisms trigger the onset of this condition, remains to be determined. Identifying these mechanims may allow to define new therapeutic avenues for a currently incurable disease.

Breve biografia de Ana Rita Carlos:
Ana Rita Carlos fez a licenciatura e o mestrado na área da Biologia na Faculdade de Ciências da Universidade de Lisboa, e posteriormente o doutoramento em Radiobiologia na Universidade de Oxford (Reino Unido), onde se dedicou ao estudo de danos no DNA, telómeros e cancro. Ao completar o seu doutoramento, em 2013, regressou a Portugal para integrar o Instituto Gulbenkian de Ciência, onde estudou o impacto do metabolismo do ferro e da glucose na tolerância à doença. Em 2019 integrou o cE3c, na Faculdade de Ciências da Universidade de Lisboa, onde leciona e onde vai desenvolver o projeto científico agora distinguido com uma Medalha de Honra L'Oréal Portugal.

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The Centre for Ecology, Evolution and Environmental Changes - cE3c (https://ce3c.ciencias.ulisboa.pt/) is a Portuguese R&D Unit committed to a sustainable future. Our research examines and integrates all levels of biological organization, from organisms up to ecosystems, both natural and anthropogenic. We have laboratories and infrastructures in several locations in Portugal and we develop our research across all the world's continents.

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