Specific Genetic Characteristics in Patients With Familial Moyamoya Disease

Abstract

Improved screening for familial moyamoya disease in the Japanese population is important to establish preventive medical protocols, because delayed surgical intervention increases the risk of severe neurologic deficit in young patients. The purpose of this study was to investigate the genetic background of patients with familial moyamoya disease, because of the dominant prevalence of moyamoya disease in the mongoloid population. The nucleotide sequences of the noncoding D-loop region of mitochondrial DNA, corresponding to positions 93-110 and 326-307 of the Cambridge Reference Sequence, were studied. The significance of differences of the average pairwise divergence between the patient and control groups was tested using the nonparametric Mann-Whitney U-test. The use of magnetic resonance imaging and magnetic resonance angiography has increased the incidental detection of moyamoya disease in the general population by 100 times, and more than half of cases are familial. In this study, 43 probands of familial moyamoya disease and 46 healthy controls without moyamoya disease were studied. The average pairwise divergence was 0.63% in the familial moyamoya disease population, and 1.2% in the control population, showing a significant difference. The familial moyamoya disease population has a specific genetic background different from the general Japanese population. Familial moyamoya disease patients in Japan have a genetically close association, indicating the possibility of screening for the specific genetic background of familial moyamoya disease.