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PubMed2003

Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron.

The biogenesis of spliceosomal small nuclear ribonucleoproteins (snRNPs) requires the cytoplasmic assembly of the Sm-core complex, followed by the hypermethylation of the small nuclear RNA (snRNA) 5' cap. Both the Sm-core complex and the snRNA trimethylguanosine cap are required for the efficient nuclear import of snRNPs. Here, we show that trimethylguanosine synthase 1 (TGS1), the human homologue of the yeast snRNA cap hypermethylase, interacts directly with the survival of motor neuron (SMN) protein. Both proteins are similarly distributed, localizing in the cytoplasm and in nuclear Cajal bodies. The interaction between TGS1 and SMN is disrupted by a mutation in SMN that mimics the predominant isoform of the protein that is expressed in patients with the neurodegenerative disease, spinal muscular atrophy. These data indicate that, in addition to its function in cytoplasmic Sm-core assembly, the SMN protein also functions in the recruitment of the snRNA cap hypermethylase.

Autoantigens↗
PubMed1994

Diverting colostomy induces mucosal and muscular atrophy in rat distal colon.

The progress of adaptive changes in the left colon after diverting colostomy was studied in rats using stereological techniques. Standardised segments of left colon proximal and distal to the colostomy was examined after 0, 1, 2, 4, or 12 weeks. In excluded colon the mucosal weight was reduced by 37% (p < 0.01) and the luminal surface area by 47% (p < 0.01) after four weeks and reached a steady state at this point of time, as no further reduction was seen from 4 to 12 weeks. The number of proliferating crypt cells was determined immunohistochemically after in vivo labelling with bromodeoxyuridine and was compared with the total number of colonocytes. Total bowel rest leads to a reduction in the number of proliferating epithelial cells and not to a reduced average life span. The weight of the muscularis propria decreased by 32% after four weeks (p < 0.01) and by 48% after 12 weeks (p < 0.001), whereas the weight of the submucosa was unchanged. No adaptive changes were found in segments proximal to the colostomy. These results show that the wall composition of defunctioned colon in rats is radically changed resulting from a mucosal and muscular atrophy, and from a reduction in luminal surface area.

Animals↗
PubMed1984

[Myocardial lesions in several forms of progressive muscular atrophy].

Using the clinical, electrocardiographic, biochemical and morphological findings, the authors assessed the cardiovascular system in 30 patients with Duchenne's myopathy and spinal amyotrophy. An analysis of the material revealed considerable metabolic-dystrophic changes in the myocardium, being more pronounced with Duchenne's myopathy. The early diagnosis of myocardial damage in the above diseases can be made on the basis of evidence from the isoenzymic spectrum of creatine kinase. Recommendations are offered on the pathogenetic therapy with due regard for myocardial involvement.

Adolescent↗
PubMed1990

A case of bulbospinal muscular atrophy with chief complaint of sensory disorder in the lower extremities.

A 56-year-old man was admitted to our department with a chief complaint of lower extremity dysesthesia. He described a dull numbness below the ankle and a dull pain in the nates for the past two years. Although the numbness extended to the thigh, he did not notice any muscular weakness or atrophy. Neurological examination revealed weakness and atrophy in the face, tongue and the proximal portions of all four extremities. Deep tendon reflexes were decreased. A moderate loss of vibratory sensation was noted below the knees. Electromyography showed neurogenic changes. Muscle biopsy revealed both myogenic and neurogenic changes. Sural nerve biopsy revealed a mild reduction of myelinated fibers, particularly the large-diameter fibers. Based on these findings, a diagnosis of bulbospinal muscular atrophy (BSMA) was made. In recent years, there have been some case reports of BSMA with sensory disturbances, or merely with subclinical manifestations of a sensory disturbance. This case is included in the same category as those reports, but it is interesting to note that the sensory disturbance in the lower extremities occurred as the chief complaint of the disease.

Humans↗