Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q16637 (SMA)
 8,107 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twelve adult patients with early stages of idiopathic membranous glomerulonephritis (MGN) and 10 with minimal change disease (MCD) for whom both light and electron microscopy as well as immunofluorescence microscopy and full clinical data were available were examined quantitatively. Morphometric investigations were performed by means of a computer image analysis system to evaluate whether morphometric analysis could reveal differences between interstitial expression of alpha-smooth muscle actin (alpha-SMA) in early cases of MGN and MCD in adults, and, in particular, to examine the relationship between alpha-SMA expression and interstitial infiltrates in these glomerulopathies. The morphometric study revealed that mean values of the interstitial expression of alpha-SMA, interstitial volume, CD45RB+, CD43+, CD20+ and CD68+ cells were in MGN patients increased in comparison with normal controls, and MCD group, most of them significantly. The correlations between interstitial expression of alpha-SMA and interstitial volume, CD45RB+, CD43+, CD20+ as well as CD68+, cells were in MCD patients weak and not significant. In MGN group significant positive correlations were found between interstitial expression of alpha-SMA and interstitial volume as well as CD68+ cells. In conclusion, our study demonstrated that in adults, interstitial expression of alpha-SMA in early cases of membranous glomerulonephritis, was significantly stronger than that in minimal change disease. It is noteworthy that in MCD interstitial alpha-SMA staining was similar to that in normal kidney. The significant positive correlation between interstitial expression of alpha-SMA and interstitial CD68+ cells needs further investigations to elucidate whether monocytes/macrophages play a role in the process of inducing the myofibroblast phenotype in resting fibroblasts.
Pol J Pathol 2000
PMID:A quantitative study of the interstitial expression of alpha-smooth muscle actin (alpha-SMA) in idiopathic membranous glomerulonephritis and minimal change disease in adults. 1083 2

Spinal muscular atrophy is a heterogeneous group of disorders characterised by the loss of alfa motor neurons in spinal cord. Autosomal recessive infantile and juvenile proximal spinal muscular atrophy is the most common form of the disease. The identification of the disease gene-Survival of Motor Neuron (SMN) was a major advance in understanding of the molecular basis of SMA. 98% of SMA patients show the homozygous absence of at least exon 7 telomeric copy of SMN, the rest carry small intragenic mutations, usually in exon 6. Two different mechanisms seem to be responsible for the absence of the telomeric copy: deletion in severe form and gene conversion associated with mild phenotype. Recently, biochemical studies resulted in identification of the 38kDa survival motor neuron (SMN) protein, probably involved in the biogenesis of spliceosomal snRNP. The SMN protein level was shown to be 100-fold reduced in spinal cord of SMA 1 patients.
Neurol Neurochir Pol
PMID:[Spinal muscular atrophy: SMN protein deficiency]. 1159 26

Eleven renal biopsy specimens from patients with lupus membranous glomerulopathy (LMGN) and 16 from patients with primary (nonlupus) membranous glomerulopathy (NLMGN) for whom light, electron microscopy and immunofluorescence microscopy, and full clinical data were available were examined quantitatively. As a control 10 biopsy specimens of the kidneys removed because of trauma were used. Morphometric investigations were performed by means of a computer image analysis system to evaluate whether mast cells have a role in tubulointerstitial fibrosis in lupus and nonlupus membranous glomerulopathy and to examine the relationship between mast cells and interstitial alpha-smooth muscle actin (alpha-SMA) expression as well as interstitial infiltrates. The morphometric study revealed that the mean values of interstitial tryptase positive cells, expression of alpha-SMA, interstitial volume, CD68+, CD45RB+, CD43+ and CD20+ cells were significantly increased in LMGN as compared with NLMGN. In both LMGN and NLMGN groups there were significant positive correlations between interstitial tryptase positive cells and interstitial expression of alpha-SMA, interstitial volume, serum creatinine as well as CD68+ cells. The present data suggest that in cases of membranous glomerulopathy with a large number of interstitial mast cells systemic lupus erythematosus should be taken into consideration, even if this aetiology was not clinically suggested at the time of biopsy. Additionally, in both LMGN and NLMGN significant positive correlations between interstitial mast cell count and relative interstitial volume support the role of these cells in the development of interstitial fibrosis, however this relationship needs further investigations.
Pol J Pathol 2001
PMID:Quantitative analysis of interstitial mast cells in lupus and non-lupus membranous glomerulopathy. 1191 83

Immunoperoxidase staining was carried out using monoclonal antibodies against CD44, alpha-smooth muscle actin and CD68 on renal biopsy specimens from patients with IgA nephropathy (IgAN, n = 16) and mesangial proliferative IgA-negative glomerulonephritis (MesProGN, n = 15). As a control 10 biopsy specimens of the kidneys removed because of trauma were used. The results showed increase in glomerular CD44+ cells and CD68+ cells in IgAN biopsies as compared with controls and MesProGN. The intensity of glomerular alpha-SMA was increased in IgAN and MesProGN as compared with controls, but no statistical differences were shown in glomerular expression of alpha-SMA between IgAN and MesProGN. In both study groups there were significant positive correlations between glomerular CD44+ cells and CD68+ cells, as well as the intensity of alpha-SMA immunostaining. The interstitial expression of CD44 and alpha-SMA in IgAN patients was significantly higher as compared with controls and MesProGN group, whereas the mean values of interstitial CD68+ cell did not differ significantly in these glomerulopathies. In both IgAN and MesProGN there were significant positive correlations between interstitial expression of CD44 and alpha-SMA, between intensity of CD44 immunostaining and CD68+ cells as well as interstitial volume. In conclusion, our study suggests possible role of CD44 interaction in macrophage recruitment and the development of interstitial fibrosis and glomerular sclerosis in both glomerulopathies.
Pol J Pathol 2002
PMID:A correlation between immunoexpression of CD44, alpha-SMA and CD68+ cells in IgA-nephropathy and in mesangial proliferative IgA-negative glomerulonephritis. 1247 18

Twenty-four renal allograft biopsy specimens from patients with acute renal transplant rejection (ARTR) for whom both light and electron microscopy as well as immunofluorescence microscopy and full clinical data were available were examined quantitatively. The specimens had similar histologic Banff 97 (IA and IB) scores. As a control 10 biopsy specimens of the kidneys removed because of trauma were used. Morphometric investigations were performed by means of a computer image analysis system to evaluate glomerular and interstitial lesions in ARTR. Another purpose of our study was to ascertain the possible relationships between alpha-smooth muscle actin (alpha-SMA) expression and selected morphometric parameters as well as monocyte/macrophage count. Our study revealed that the mean values of total glomerular cells per total glomerular area, mesangium (% of total glomerular area), glomerular and interstitial alpha-SMA staining, glomerular and interstitial monocytes/macrophages as well as interstitial volume were increased in ARTR in comparison with controls. In ARTR group significant positive correlations existed between glomerular expression of alpha-SMA and total glomerular cells per total glomerular area, as well as glomerular CD68+ cells. Moreover, interstitial expression of alpha-SMA and interstitial volume, as well as interstitial CD68+ cells were in ARTR patients also positively and significantly correlated. Similarly, in this group positive significant correlation between interstitial volume and interstitial CD 68+ cells was noted. In conclusion, our study suggests that glomerular hypercellularity and mesangial changes are common in ARTR, whereas enhanced interstitial fibrosis confirms a risk of early allograft injury in these cases.
Pol J Pathol 2003
PMID:A morphometric insight into glomerular and interstitial lesions in acutely rejected renal allografts. 1470 83

The objective of this work was to evaluate the distribution of alpha-smooth muscle actin cells in the intact human anterior cruciate ligament and to determine if rupture of the anterior cruciate ligament and the time since injury has any influence on the occurrence of cells with contractile capability, positively stained for a-smooth muscle actin. The intact anterior cruciate ligament group (group A) undergoing total knee arthroplasty, consisted of 9 patients (8 females) with mean age of 65.3 years. The anterior cruciate ligament rupture group (group B) consisted of 20 patients (18 males, 2 females) with mean age of 27.8 years. Healing time of the torn ligament in vivo lasted from 1 to 40 months and the patients were divided into 3 groups (Bi-Biii) embracing diverse time periods. All harvested anterior cruciate ligaments were sectioned in thirds so that there was a proximal, middle and distal third for each ligament. Distribution of alpha-smooth muscle actin was detected with mouse monoclonal anti-human smooth muscle actin antibody. The alpha-SMA cells density was significantly affected by the time after injury as well as the location in the ligament remnant. The decrease of alpha-smooth muscle actin cells in the proximal and middle thirds of the ligament after rupture may suggest that alpha-SMA cells are not mainly responsible for primary retraction of the ruptured human anterior cruciate ligament.
Chir Narzadow Ruchu Ortop Pol 2005
PMID:Alpha-smooth muscle actin expression in intact and ruptured human anterior cruciate ligament--an immunohistochemical assessment. 1602 26

The report presents 200 cases of gastrointestinal stromal tumors (GIST). The material originated from six diagnostic centers in Poland and was reclassified according to the current criteria. Among lesions other than GISTs, 14 were identified as smooth muscle tumors and seven as neural tumors. GISTs were located in the stomach (51-63.3% of the investigated series), small intestine (27.4-33.8%), colon (approximately 4.5%), abdominal cavity, i.e. in the peritoneum and omentum (6%), and in the retroperitoneal space (2.5%). A slight predominance of women was noted (53-56%). The age of the patients ranged between 14 and 93 years of life, with the mean age of 62.4 years. Individuals younger than 45 years of age accounted for 10% of the group. In ten patients (five of them less than 45 years of life), multiple tumors were detected, their number ranging from two to less than 20; these individuals constituted 5% of the entire series. Moderately and highly aggressive tumors predominated. In the series, when multiple tumors were excluded, a total of 24 epithelioid GISTs (12%) were observed; of this number, 13 were situated in the stomach, six--in the small intestine, two--in the abdominal cavity and another two in the retroperitoneal space. Synchronic tumors observed in patients with GISTs were seen in seven patients, including an adenocarcinoma of the colon, two adenocarcinomas of the stomach, a carcinoid tumor of the small intestine, a pheochromocytoma of the retroperitoneal space, an anaplastic lymphoma and a disseminated squamous cell carcinoma. In immunohistochemical reactions (CD117, CD34, SMA, S-100, DES), attention was focused on the immunoreactivity of small GISTs, below 2 cm in size, and of multiple tumors. Immunohistochemical reactions were equally differentiated as to their presence and intensity in small tumors and in highly aggressive lesions above 5-10 cm in size. In multiple GISTs, immunohistochemical tests strongly indicated the heterogeneity of neoplastic cells, which, nevertheless, showed no consistent association with the location of the tumor, its aggressiveness, cellular structure or a tendency to form multiple foci.
Pol J Pathol 2005
PMID:Gastrointestinal stromal tumors. A multicenter experience. 1609 66

Recent evidence suggests a role for mast cells in the pathogenesis of renal scarring in various glomerulopathies, therefore the present study was undertaken to evaluate whether mast cells have a role in tubulointerstitial fibrosis in rebiopsied patients with idiopathic mesangial proliferative glomerulonephritis (MPG) and to examine a possible relationship between mast cells and interstitial alpha-smooth muscle actin (alpha-SMA) expression as well as interstitial infiltrates. Seventeen patients with idiopathic mesangial proliferative glomerulonephritis, in whom renal biopsies were repeated and for whom light and electron microscopy as well as immunofluorescence microscopy and full clinical data were available were examined quantitatively. Morphometric investigations were performed by means of a computer image analysis system. The study revealed that at the rebiopsy proteinuria was significantly lower as compared with the first biopsy. On the other hand, the mean values of the interstitial tryptase positive cells, expression of alpha-SMA, interstitial volume and CD68+ cells were at rebiopsy significantly increased. The mean values of CD45RB+, CD43+ and CD20+ cells did not differ significantly in these groups. In both initial biopsy and rebiopsy groups there were significant positive correlations between interstitial tryptase positive cells and interstitial expression of alpha-SMA, interstitial volume, and CD68+ cells. The present quantitative study may suggest that despite of the clinical improvement at rebiopsy, MPG is a progressive glomerular disease, and point to a role of mast cells in this process.
Pol J Pathol 2005
PMID:Immunohistochemical analysis of the interstitial mast cells in rebiopsied patients with idiopathic mesangial proliferative glomerulonephritis. 1609 67

An 83-year-old woman was admitted to our hospital because of colicky pain under the right costal arch suggesting cholecystitis. Physical examination confirmed by ultrasound scan indicated a palpable tumor in that location. Laparotomy was performed and the tumor was removed. Histopathological examination revealed malignant peripheral nerve sheath tumor (MPNST) originating in neurofibroma of the mesentery. Macroscopic, histological and cytological features were typical for MPNST. High nuclear pleomorphism, hyperchromasia were observed but on average only two mitotic figures per high power field were seen. The growth fraction determined by Ki-67 immunoreactivity was about 30%. Immunohistochemical stains revealed positivity of individual cells for NK-1(CD57), S-100 protein and NSE. It was lack of positivity for cytokeratin, EMA, vimentin, desmin, SMA, CD34. We report a well documented case of MPNST originating in preexisting neurofibroma of the mesentery. To our knowledge, is the first case in the Polish literature.
Pol J Pathol 2005
PMID:Malignant peripheral nerve sheath tumor originating in neurofibroma of the mesentery. Case report. 1633 83

The human gene BDP1, localized on chromosome 5q13 in close proximity to the spinal muscular atrophy determining gene SMN, encodes a large protein consisting of 2254 amino acids (aa). In the first third of the gene, the subunit of the RNA polymerase III (Pol III) transcription factor complex (TFIIIB alpha/beta) is encoded. To further characterize the function of BDP1, we carried out a yeast two-hybrid screen using various parts of BDP1. With the clone BDP1-(1-640) we identified a novel interaction partner, ZNF297B. The ZNF297B gene is localized on chromosome 9q24 and encodes a zinc finger protein of 467 aa possessing the typical structure of a transcription factor. The interaction found in yeast was confirmed by co-immunoprecipitation and refined to the N-terminal region of ZNF297B-(1-127) containing the BTB/POZ domain and the N-terminal end of BDP1-(1-299). The ZNF297B transcript is 5.7 kb in length and ubiquitously expressed, with highest levels found in muscles. Immunofluorescence staining revealed a speckled pattern in the nuclei of HEK293 cells. Due to the essential role of BDP1 in Pol III transcription, we propose that ZNF297B may also regulate these transcriptional pathways.
 ...
PMID:The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB. 1654 49


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