Search results for "DYSTROPHY"
showing 10 items of 268 documents
Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family
1995
A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. "Idiopathic" hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unus…
Recovery of Damaged Skeletal Muscle in mdx Mice through Low-intensity Endurance Exercise
2013
The lack of dystrophin in mdx mice leads to cycles of muscle degeneration and regeneration processes. Various strategies have been proposed in order to reduce the muscle-wasting component of muscular dystrophy, including implementation of an exercise programme. The aim of this study was to examine how low-intensity endurance exercise affects the degeneration-regeneration process in dystrophic muscle of male mdx mice. Mice were subjected to low-intensity endurance exercise by running on a motorized Rota-Rod for 5 days/week for 6 weeks. Histomorphological analysis showed a signifi cant reduction of measured inflammatory-necrotic areas in both gastrocnemius and quadriceps muscle of exercised m…
Retinopathia Pigmentosa Plus - the Value of Ultra-Structural Examination of the Human Retina
1993
Retinopathia pigmentosa is more widely, but somewhat incorrectly known as Retinitis pigmentosa (RP). Its course as a primary exclusively retinal disease follows autosomal-dominant, autosomal-recessive, or X-linked recessive modes of inheritance, or it may be sporadic. However, a progressive retinopathy, also called tapeto-retinal degeneration, may also be associated with numerous disorders: retinopathia pigmentosa plus (RPP). Among these RPP are those which form part of certain syndromes, e.g. Laurence-Moon-Bardet-Biedl syndrome, the Hallgren syndrome, the Marinesco-Sjogren syndrome, to name a few. Other RPP are associated with disorders of different organs, the skin, e.g. Werner disease, t…
Mehrsegmentale Fusion der Skoliose bei Duchenne-Muskeldystrophie
2008
Operations in scoliosis in patients suffering from an advanced stage of Duchenne muscular dystrophy are associated with a higher risk due to the extent of the curves, the respiratory insufficiency and frequent cardiomyopathia. Progressive scolioses in 20 wheelchair patients with an age between 10.5-18.3 years (mean 14.6 years) were treated by CDI. The mean preoperative angle in this group was 70.6 degrees, the postoperative angle 31.2 degrees (mean correction 39.4 degrees or 55.8%). The preoperative lordosis of the lumbar spine (mean angle 4.1 degrees) was corrected to 17.8 degrees postoperatively. The average intraoperative blood loss (2300 ccm) was evident more compared with idiopathic sc…
FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.
2013
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD region gene 1 (FRG1) since its over-expression in mice, Xenopus laevis and Caenorhabditis elegans, leads to muscular dystrophy-like defects, suggesting that FRG1 plays a relevant role in muscle biology. Here we show that, when over-expressed, FRG1 binds and interferes with the activity of the histone methyltransferase Suv4-20h1 both in mammals and Drosophila. Accordingly, FRG1 over-expression or Suv4-20h1 knockdown inhibits myogenesis. Moreov…
P.20.3 Targeting fibrosis and inflammation in Duchenne Muscular Dystrophy
2013
Duchenne Muscular Dystrophy is the most frequent genetic muscle disease worldwide affecting ∼1:5000 male births. It is caused by a defective DMD gene, which leads to reduced and defective dystrophin protein expression. The constant breakdown of fibres leads to focal necrosis, myophagocytosis and a considerable influx of inflammatory cells into the muscle tissue, which is followed by increasing endomysial fibrosis. Both, inflammation and fibrosis as well as a putative relation are not yet understood immunologically. Fibrosis directly correlates with adverse outcome and early loss of ambulation. We have studied how inflammation is linked to fibrosis in DMD, with an emphasis on the communicati…
Individual and combinatory effects of voluntary wheel running and sActRIIB-Fc administration on redox-balance in mdx mice
2015
Duchenne’s muscular dystrophy (DMD) is X-chromosome linked muscle wasting dis-ease. It is caused by a mutation in the gene coding protein called dystrophin leading to premature death and significantly impairing the quality of life of DMD patients. Oxida-tive stress is a contributing factor in the pathology of DMD. Light intensity exercise and interventions that promote sirtuin (SIRT) 1 activity have been shown to be antioxidant for mdx mice and to ameliorate the symptoms of DMD. Also blocking activin receptor IIB (ActRIIB) ligands has been shown in some, but not all studies to improve the pa-thology of the DMD. The purpose of this study was to find out the individual and com-binatory effect…
Homozygous mutations incaveolin-3cause a severe form of rippling muscle disease
2003
Heterozygous missense mutations in the caveolin-3 gene (CAV3) cause different muscle disorders. Most patients with CAV3 alterations present with rippling muscle disease (RMD) characterized by signs of increased muscle irritability without muscle weakness. In some patients, CAV3 mutations underlie the progressive limb-girdle muscular dystrophy type 1C (LGMD1C). Here, we report two unrelated patients with novel homozygous mutations (L86P and A92T) in CAV3. Both presented with a more severe clinical phenotype than usually seen in RMD. Immunohistochemical and immunoblot analyses of muscle biopsies showed a strong reduction of caveolin-3 in both homozygous RMD patients similar to the findings in…
DNA-fragmentation and expression of apoptosis-related proteins in muscular dystrophies
1997
Although numerous sarcolemmal protein defects in muscular dystrophies have been identified, the mechanisms linking these defects and muscle fibre degeneration are not fully characterized. As there is evidence that apoptosis is part of muscle fibre loss in dystrophin-deficient mdx-mice, apoptotic muscle fibre death may also play a role in humans with muscular dystrophies. We investigated in-situ DNA-fragmentation by the TUNEL-method and expression of apoptosis-related proteins immunohistochemically in 14 children suffering from deficiencies of dystrophin, adhalin, and merosin, and found TUNEL-positive chromatin-cleavage of muscle fibre nuclei in about 10% of non-necrotic muscle fibres. DNA-f…
Generación y caracterización de modelos en Drosophila de disfunción cardiaca en distrofia miotónica
2018
La tesis titulada "Generación y caracterización de los modelos de Drosophila de la disfunción cardíaca en la distrofia miotónica" se realiza mediante la combinación de tres artículos publicados. Después de la dificultad respiratoria, la disfunción cardíaca es la segunda causa más común de muerte asociada con la enfermedad neuromuscular distrofia miotónica (DM). A pesar de la participación central de la insuficiencia cardíaca en la DM, los estudios fisiopatológicos sobre los síntomas cardíacos han sido relativamente escasos porque pocos modelos murinos reproducen fielmente la enfermedad cardíaca. En consecuencia, solo un pequeño número de compuestos candidatos se han evaluado en este fenotip…