Dysregulated Hemostasis and Immunothrombosis in Cerebral Cavernous Malformations

Globisch, Maria AscencionUppsala universitet,Institutionen för immunologi, genetik och patologi (author)

Cerebral cavernous malformation (CCM) is a neurovascular disease that affects 0.5% of the general population. For a long time, CCM research focused on genetic mutations, endothelial junctions and proliferation, but recently, transcriptome and proteome studies have revealed that the hemostatic system and neuroinflammation play a crucial role in the development and severity of cavernomas, with some of these publications coming from our group. The aim of this review is to give an overview of the latest molecular insights into the interaction between CCM-deficient endothelial cells with blood components and the neurovascular unit. Specifically, we underscore how endothelial dysfunction can result in dysregulated hemostasis, bleeding, hypoxia and neurological symptoms. We conducted a thorough review of the literature and found a field that is increasingly poised to regard CCM as a hemostatic disease, which may have implications for therapy.

Onyeogaziri, FavourUppsala universitet,Institutionen för immunologi, genetik och patologi(Swepub:uu)favon830 (author)
Smith, Ross O.Uppsala universitet,Science for Life Laboratory, SciLifeLab(Swepub:uu)rossm781 (author)
Arce, MaximilianoUppsala universitet,Institutionen för immunologi, genetik och patologi(Swepub:uu)maxar829 (author)
Magnusson, PeetraUppsala universitet,Institutionen för immunologi, genetik och patologi(Swepub:uu)petrmagn (author)
Uppsala universitetInstitutionen för immunologi, genetik och patologi (creator_code:org_t)

By the author/editor: Globisch, Maria ...; Onyeogaziri, Fav ...; Smith, Ross O.; Arce, Maximilian ...; Magnusson, Peetr ...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cardiac and Card ...

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