The Progression of Pathophysiology of Moyamoya Disease

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Moyamoya disease (MMD) is a chronic steno-occlusive cerebrovascular disease that often leads to hemorrhagic and ischemic strokes; however, its etiology remains elusive. Surgical revascularization by either direct or indirect bypass techniques to restore cerebral hypoperfusion is the treatment of choice to date. This review aims to provide an overview of the current advances in the pathophysiology of MMD, including the genetic, angiogenic, and inflammatory factors related to disease progression. These factors may cause MMD-related vascular stenosis and aberrant angiogenesis in complex manners. With a better understanding of the pathophysiology of MMD, nonsurgical approaches that target the pathogenesis of MMD may be able to halt or slow the progression of this disease.

Related collections

Most cited references 83

Record: found
Abstract: found
Article: not found

Structure and function of matrix metalloproteinases and TIMPs.

Hideaki Nagase, Robert Visse, Gillian Murphy (2006)

Matrix metalloproteinases (MMPs), also called matrixins, function in the extracellular environment of cells and degrade both matrix and non-matrix proteins. They play central roles in morphogenesis, wound healing, tissue repair and remodelling in response to injury, e.g. after myocardial infarction, and in progression of diseases such as atheroma, arthritis, cancer and chronic tissue ulcers. They are multi-domain proteins and their activities are regulated by tissue inhibitors of metalloproteinases (TIMPs). This review introduces the members of the MMP family and discusses their domain structure and function, proenyme activation, the mechanism of inhibition by TIMPs and their significance in physiology and pathology.

0 comments Cited 383 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Moyamoya disease: current concepts and future perspectives.

Satoshi Kuroda, Kiyohiro Houkin (2008)

Moyamoya disease is an uncommon cerebrovascular disease that is characterised by progressive stenosis of the terminal portion of the internal carotid artery and its main branches. The disease is associated with the development of dilated, fragile collateral vessels at the base of the brain, which are termed moyamoya vessels. The incidence of moyamoya disease is high in east Asia, and familial forms account for about 15% of patients with this disease. Moyamoya disease has several unique clinical features, which include two peaks of age distribution at 5 years and at about 40 years. Most paediatric patients have ischaemic attacks, whereas adult patients can have ischaemic attacks, intracranial bleeding, or both. Extracranial-intracranial arterial bypass, including anastomosis of the superficial temporal artery to the middle cerebral artery and indirect bypass, can help prevent further ischaemic attacks, although the beneficial effect on haemorrhagic stroke is still not clear. In this Review, we summarise the epidemiology, aetiology, clinical features, diagnosis, surgical treatment, and outcomes of moyamoya disease. Recent updates and future perspectives for moyamoya disease will also be discussed.

0 comments Cited 315 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

Fumiaki Kamada, Yoko Aoki, Ayumi Narisawa … (2011)

Moyamoya disease (MMD) shows progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. Although ∼ 15% of MMD cases are familial, the MMD gene(s) remain unknown. A genome-wide association study of 785,720 single-nucleotide polymorphisms (SNPs) was performed, comparing 72 Japanese MMD patients with 45 Japanese controls and resulting in a strong association of chromosome 17q25-ter with MMD risk. This result was further confirmed by a locus-specific association study using 335 SNPs in the 17q25-ter region. A single haplotype consisting of seven SNPs at the RNF213 locus was tightly associated with MMD (P = 5.3 × 10(-10)). RNF213 encodes a really interesting new gene finger protein with an AAA ATPase domain and is abundantly expressed in spleen and leukocytes. An RNA in situ hybridization analysis of mouse tissues indicated that mature lymphocytes express higher levels of Rnf213 mRNA than their immature counterparts. Mutational analysis of RNF213 revealed a founder mutation, p.R4859K, in 95% of MMD families, 73% of non-familial MMD cases and 1.4% of controls; this mutation greatly increases the risk of MMD (P = 1.2 × 10(-43), odds ratio = 190.8, 95% confidence interval = 71.7-507.9). Three additional missense mutations were identified in the p.R4859K-negative patients. These results indicate that RNF213 is the first identified susceptibility gene for MMD.