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Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases

Authors Dorschel KB, Wanebo JE

Received 20 March 2020

Accepted for publication 26 December 2020

Published 18 March 2021 Volume 2021:14 Pages 145—171

DOI https://doi.org/10.2147/TACG.S252736

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Prof. Dr. Martin H. Maurer


Kirsten B Dorschel,1,* John E Wanebo2,3,*

1Heidelberg University Medical School, Ruprecht-Karls-Universität Heidelberg, Heidelberg, Germany; 2Department of Neurosurgery, Barrow Neurological Institute, Phoenix, Arizona, USA; 3Department of Neuroscience, HonorHealth Research Institute, Scottsdale, AZ, USA

*These authors contributed equally to this work

Correspondence: John E Wanebo
c/o Neuroscience Publications; Barrow Neurological Institute, St. Joseph’s Hospital and Medical Center, 350 W. Thomas Road, Phoenix, AZ, 85013, USA
Tel +1 602 406 3593
Fax +1 602 406 4104
Email [email protected]

Rationale: This literature review describes the pathophysiological mechanisms of the current classes of proteins, cells, genes, and signaling pathways relevant to moyamoya angiopathy (MA), along with future research directions and implementation of current knowledge in clinical practice.
Objective: This article is intended for physicians diagnosing, treating, and researching MA.
Methods and Results: References were identified using a PubMed/Medline systematic computerized search of the medical literature from January 1, 1957, through August 4, 2020, conducted by the authors, using the key words and various combinations of the key words “moyamoya disease,” “moyamoya syndrome,” “biomarker,” “proteome,” “genetics,” “stroke,” “angiogenesis,” “cerebral arteriopathy,” “pathophysiology,” and “etiology.” Relevant articles and supplemental basic science articles published in English were included. Intimal hyperplasia, medial thinning, irregular elastic lamina, and creation of moyamoya vessels are the end pathologies of many distinct molecular and genetic processes. Currently, 8 primary classes of proteins are implicated in the pathophysiology of MA: gene-mutation products, enzymes, growth factors, transcription factors, adhesion molecules, inflammatory/coagulation peptides, immune-related factors, and novel biomarker candidate proteins. We anticipate that this article will need to be updated in 5 years.
Conclusion: It is increasingly apparent that MA encompasses a variety of distinct pathophysiologic conditions. Continued research into biomarkers, genetics, and signaling pathways associated with MA will improve and refine our understanding of moyamoya’s complex pathophysiology. Future efforts will benefit from multicenter studies, family-based analyses, comparative trials, and close collaboration between the clinical setting and laboratory research.

Keywords: genetics, moyamoya, pathophysiology, proteomics, stroke

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