Though her 2 children and uncle had a typical moyamoya disease with RNF213p.R4810K heterozygous variant, she has had no clinical and radiological evidence of moyamoya disease.
Mutations in Ring Finger Protein 213 (<i>RNF213</i>), a Zinc ring finger protein, have been identified in some MMD patients but the etiology of MMD is still largely unknown.
Two MMD-associated rare variants (p.R4810K and p.A4399T) in RNF213 were identified in two patients, three BMPR2 mutations (p.Q92H, p.L198Rfs*4, and p.S930X) were found in three patients, whereas no CAV1 mutations were identified.
Background and Purpose- The ring finger protein 213 gene ( RNF213) is a susceptibility gene for moyamoya disease and large-artery ischemic stroke in East Asia.
On the other hand, a common missense mutation [NM_001256071.2:c.14429G>A (p.Arg4810Lys)] related to MMD in exon 60 of RNF213 was also identified by Sanger sequencing.
However, the outer vessel diameter was smaller in <i>RNF213</i> variant carriers than in noncarriers (<i>P</i><0.0001 for middle cerebral artery of relevant stenosis [2.05-mm analysis of RNF213 gene for moyamoya disease in the Chinese HAN population 2.75 mm]; <i>P</i><0.0001 for contralateral side [2.42 versus 3.00 mm] and <i>P</i><0.001 for basilar artery [3.19 versus 3.53 mm]).
Among previously unknown genetic modifiers of lipotoxicity, depletion of RNF213, a putative ubiquitin ligase mutated in Moyamoya vascular disease, protected cells from lipotoxicity.
Moreover, the RNF213 variant was recently reported to be associated with non-MMD disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and renal artery stenosis).
Because of a family history of Moyamoya disease (MMD), genetic analysis was performed, and revealed that this patient was homozygous for RNF213p.Arg4810Lys.
Moyamoya disease (MMD) is characterized by progressive stenosis of intracranial arteries in the circle of Willis with unknown etiology even after the identification of a Moyamoya susceptible gene, RNF213.
Whether atherosclerosis is the cause of A-MMS or it further exacerbates the injury of MMD to the A-MMS patients with RNF213 gene variant is a question to be investigated.
There were no differences in the serum sCD163 and CXCL5 levels between each genotype of the RNF213 polymorphism (wild-type or variant) among MMD patients.
In recent years, the ring finger protein 213 gene (RNF213) has gradually attracted attention, mainly because it has been found that RNF213 c.14429 G>A is associated with moyamoya disease (MMD) in East Asian populations.
We evaluated whether the degree of negative remodeling in the patients with MMD was associated with RNF213 polymorphism, cav-1 levels, or various clinical and vascular risk factors.