Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy

BACKGROUND AND PURPOSE: Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common causes of autosomal dominant or sporadic CNM. The aim of this study was to characterize the clinical and pathological features of CNM relative to the presence of DNM2 mutations. METHODS: Six patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. RESULTS: We detected DNM2 mutations in four of the six sporadic CNM patients, and identified the following distinct clinical and pathological features in those patients with DNM2 mutations: preferential involvement of the distal lower limbs, typical nuclear centralization, and radially distributed sarcoplasmic strands in muscle pathology. In contrast, those without DNM2 mutations exhibited rather diffuse muscular involvement, and nuclear internalization and myofibrillar disorganization were more pronounced features of their muscle pathology. CONCLUSIONS: These findings suggest the presence of specific features in Korean CNM patients. A detailed clinical and pathological examination of CNM patients would be helpful for molecular genetic analyses of this condition.

Effect of Citrus aurantium L. essential oil on muscle regeneration in mdx mice / Efecto del aceite esencial de Citrus aurantium L. en la regeneración muscular en ratones mdx

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder characterized by the progressive loss of muscular strength. Mdx mutant mice show a marked deficiency in dystrophin, which was related to muscle membrane stability. The aim of this study was to verify the possible protective anti-inflammatory effect of citrus oil on mdx muscle fibers. Thus, adult male and female mdx mice (014/06-CEEA) were divided into control and citrus-treated. After 60 days of treatment, one ml of blood was collected for creatine kinase (CK) test. Diaphragm, sternomastoideus, anterior tibial and gastrocnemius muscles were removed and processed according to histological routine methods. The observed alterations indicate a direct effect of citrus. Recent studies have improved the diagnosis of muscular diseases but with no definitions of efficient treatments. Intervention with several therapies is important to many patients presenting muscular dystrophy, which enables them to live longer and be more active, while there is no development of gene therapies.

La distrofia muscular de Duchenne (DMD) es una enfermedad grave ligada al cromosoma X, trastorno recesivo que se caracteriza por la pérdida progresiva de fuerza muscular. Mdx ratones mutantes muestran una marcada deficiencia en la distrofina, que está relacionada con la estabilidad de la membrana muscular. El objetivo de este estudio fue comprobar el posible efecto protector, antiinflamatorio del aceite de cítricos en las fibras musculares mdx. Los ratones mdx adultos machos y hembras (014/06-CEEA) se dividieron en control y cítricos tratados. Después de 60 días de tratamiento, un ml de sangre fue recogida para cuantificar la creatina quinasa (CK) de prueba. Fueron retirados y procesados los músculos diafragma, esternomastoideo, tibial anterior y gastrocnemio de acuerdo con los métodos de rutina histológica. Las alteraciones observadas indican un efecto directo de los cítricos. Estudios recientes han mejorado el diagnóstico de enfermedades musculares, pero sin definiciones de tratamientos eficaces. Intervención con varias terapias es importante para muchos pacientes que presentan distrofia muscular, lo que les permite vivir más y ser más activos, mientras no exista desarrollo de terapias génicas.