Search results for "Dystrophy"

Induction of the adrenoleukodystrophy-related gene (ABCD2) by thyromimetics.

2009

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 (ALD) gene. The ABCD2 gene, its closest homolog, has been shown to compensate for ABCD1 deficiency when overexpressed. We previously demonstrated that the ABCD2 promoter contains a functional thyroid hormone response element. Thyroid hormone (T3) through its receptor TRbeta can induce hepatic Abcd2 expression in rodents and transiently normalize the VLCFA level in fibroblasts of Abcd1 null mice. In a therapeutic perspective, the use of selective agonists of TRbeta should present the advantage to be devoid of side effects, at least concerning the cardiotoxicity associated to TRalpha activation. I…

Serum concentrations of collagen degrading enzymes and their inhibitors after downhill running

2001

In the present study the release of proteins degrading extracellular matrix compounds to circulation was measured after damaging exercise in humans. Muscle damage was induced by downhill running; furthermore, the exercise was performed at both cold temperature (5 degrees C) and room temperature (22 degrees C) to study also the possible effect of environmental temperature on serum concentrations of matrix metalloproteinases MMP-2 and MMP-9, tissue inhibitors of metalloproteinases TIMP-1 and TIMP-2, and MMP-2/TIMP-2 complex, and muscle damage monitored by serum creatine kinase measurements. Results were compared with those obtained from patients having rhabdomyolysis, myositis and Becker musc…

Facial cystic lesions and onychodystrophy.

2018

Papillomatosis Gougerot und Carteaud als ektodermale Randsymptomatik bei segment�rer Lipodystrophie

1963

Beschreibung einer Gougerot-Carteaudschen Papillomatose, die bisher ausschlieslich im Bereiche einer segmentaren Fettverteilungsstorung nach Art der progressiven Lipodystrophie zur Ausbreitung gekommen ist. Unter Hinweis auf annahernd vergleichbare Hautbegleiterscheinungen bei anderen vorzugsweise mesenchymalen Konstitutionsabweichungen (z. B. dem Marfan- oder dem Ehlers-Danlos-Syndrom) werden die papillomatosen Veranderungen als ektodermale Randsymptome gewertet.

Osteoporosis, densidad mineral ósea y complejo CKD-MBD (II): implicaciones terapéuticas

2019

Resumen: La osteoporosis (OP) y la enfermedad renal crónica (ERC) influyen independientemente en la salud ósea. Numerosos pacientes con ERC presentan una disminución de densidad mineral ósea (DMO), un elevado riesgo de fracturas por fragilidad ósea y un incremento de su morbimortalidad. Con el envejecimiento de la población estos hechos no son dependientes solo de la «osteodistrofia renal» sino también de la OP asociada. Dado que la DMO tiene capacidad predictiva en pacientes con ERC (parte I), ahora analizaremos las implicaciones terapéuticas derivadas. Análisis post hoc de estudios aleatorizados han mostrado que fármacos como alendronato, risedronato, raloxifeno, teriparatida o denosumab …

Clinical and genetic update of corneal dystrophies.

2019

The International Committee for Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant patterns do exist. Before any genetic examination, there should be documentation of a detailed corneal exam of as many affected and unaffected family members as possible, because detailed phenotypic description is essential for accurate diagnosis. Corneal documentation should be performed in direct and indirect illumination at the slit lamp with the pharmacologically dilated pupil. For the majority of the corneal dystrophies, a phenotype-genotype correlatio…

Proof of Concept of Therapeutic Gene Modulation of MBNL1/2 in Myotonic Dystrophy

2022

La distrofia miotónica tipo 1 es una enfermedad genética rara multisistémica que afecta a 1 de cada 3000-8000 personas. La causa molecular de la enfermedad proviene de repeticiones tóxicas “CTG” en el gen DMPK (DM Protein Kinase). Tras la transcripción, estas repeticiones forman una estructura de horquilla que se une con alta afinidad a la familia de proteínas MBNL (Muscleblind-like) que agota su función de regulación de la poliadenilación y el splicing alternativo postranscripcional en numerosos transcritos. La pérdida de función de MBNL provoca una cascada de efectos posteriores, que eventualmente conducen a síntomas clínicos que incluyen miotonía, debilidad y atrofia muscular, cataratas,…

Quadriceps muscle proteomic profiling of exercised versus sedentary mdx mice

2014

Myostatin/activin blocking combined with exercise reconditions skeletal muscle expression profile of mdx mice

2015

Duchenne Muscular Dystrophy is characterized by muscle wasting and decreased aerobic metabolism. Exercise and blocking of myostatin/activin signaling may independently or combined counteract muscle wasting and dystrophies. The effects of myostatin/activin blocking using soluble activin receptor-Fc (sActRIIB-Fc) administration and wheel running were tested alone or in combination for seven weeks in dystrophic mdx mice. Expression microarray analysis revealed decreased aerobic metabolism in the gastrocnemius muscle of mdx mice compared to healthy mice. This was not due to reduced home-cage physical activity, and was further downregulated upon sActRIIB-Fc treatment in enlarged muscles. However…

RNA-mediated therapies in myotonic dystrophy

2018

Myotonic dystrophy 1 (DM1) is a multisystemic neuromuscular disease caused by a dominantly inherited 'CTG' repeat expansion in the gene encoding DM Protein Kinase (DMPK). The repeats are transcribed into mRNA, which forms hairpins and binds with high affinity to the Muscleblind-like (MBNL) family of proteins, sequestering them from their normal function. The loss of function of MBNL proteins causes numerous downstream effects, primarily the appearance of nuclear foci, mis-splicing, and ultimately myotonia and other clinical symptoms. Antisense and other RNA-mediated technologies have been applied to target toxic-repeat mRNA transcripts to restore MBNL protein function in DM1 models, such as…