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)

Experimental autoimmune orchitis (EAO) was induced in SMA mice (H-2nondefined) by repeated injection at intervals of 30 days of syngeneic testis homogenate (TH) together with Klebsiella O3 lipopolysaccharide (KO3 LPS) as a potent adjuvant. EAO was not induced by repeated injection of TH alone or KO3 LPS alone. At 10 days after the secondary injection of TH + KO3 LPS, there was marked infiltration with neutrophils in the seminiferous tubules and in the interstitium of the testis accompanied by destruction of the architecture of the seminiferous tubules and hypospermatogenesis. At 20 days after the secondary injection, infiltration with neutrophils in these areas had been replaced mostly by mononuclear cells (lymphocytes, plasma cells, and macrophages). Histopathological changes of the testes became severer by further injections until the 10th injection. The EAO lesions in the terminal stage were characterized by complete destruction of the tubular architecture of the testis, fibrosis, and aspermatogenesis. Lesions in the terminal stage were not restored at all. Spermagglutinating antibody titers in the serum increased and delayed-type hypersensitivity against TH estimated by footpad swelling developed in mice injected repeatedly with TH + KO3 LPS. Using immunofluorescence, antibodies against acrosomal components and tail components of the spermatozoa were detected in serum of these mice.
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PMID:A new mouse model for autoimmune orchitis. 205 61

Sperm maturation antigen 4 (SMA-4) is a surface component of the mouse sperm tail. Previously, immunofluorescence studies indicated that SMA-4 may be secreted by principal cells of the distal caput epididymidis and bound to spermatozoa as they pass through that region of the duct. In the present study, detergent extracts of spermatozoa from the cauda epididymidis were subjected to polyacrylamide gel electrophoresis under reducing and denaturing conditions, transferred to nitrocellulose, and immunostained with a monoclonal antibody against SMA-4. A band of approximately 54,000 molecular weight was revealed. The band was also stained by the periodic acid-Schiff (PAS) procedure. This glycoprotein was not detected in extracts of spermatozoa from the proximal caput epididymidis or of spermatozoa from the cauda epididymidis that were preincubated for 4 hours in an in vitro fertilization environment. Blots of sperm-free fluid from the corpus and cauda epididymidis displayed an immunoreactive and PAS-positive band of about 85,000 molecular weight that was not observed in fluid from the caput epididymidis. The difference in the molecular weights of the antigen in the fluid and that in extracts of cauda spermatozoa suggests that SMA-4 may be modified chemically upon association with the sperm surface.
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PMID:Further characterization of a secreted epididymal glycoprotein in mice that binds to sperm tails. 244 Aug 39

With the detection of a homozygous deletion of the survival motor neuron 1 gene (SMN1), prenatal and preimplantation genetic diagnosis (PGD) for spinal muscular atrophy has become feasible and widely applied. The finding of a de novo rearrangement, resulting in the loss of the SMN1 gene, reduces the recurrence risk from 25% to a lower percentage, the residual risk arising from recurrent de novo mutation or germline mosaicism. In a couple referred to our PGD center because their first child was affected with SMA, the male partner was shown to carry two SMN1 copies. An analysis of the SMN1 gene and two flanking markers was performed on 12 single spermatozoa, to determine whether the father carried a CIS duplication of the SMN1 gene on one chromosome and was a carrier, or if the deletion has occurred de novo. We showed that all spermatozoa that were carriers of the 'at-risk haplotype' were deleted for the SMN1 gene, confirming the carrier status of the father. We provide an original application of single germ cell studies to recessive disorders using coamplification of the gene and its linked markers. This efficient and easy procedure might be useful to elucidate complex genetic situations when samples from other family members are not available.
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PMID:Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy. 1990 99

The African Catfish (Clarias gariepinus) are important source of protein for local consumers in developing countries in Africa and have also been reported to have enormous commercial potential. Several works have been done on plethora of general histological, biochemical and hormone changes which accompany puberty in African Catfish. Other studies have touched the effects of ecotoxins on the histological and reproductive parameters of the mature African Catfish. This study is an attempt to use immunohistochemical and basic histology to elucidate the baseline information on the general structural differences between the testes of immature and post-pubertal catfish with respect to some intermediate filaments arrangement within the testicular tissue. Ten (10) each of mature male catfish (4-5 months old) and immature male catfish (3 months old) were used in the study. The fish were subjected to cold shock and decapitated before the testes were harvested from both groups. These tissues were fixed in Bouins fluid for 24 hours and subsequently transferred into 70% Ethanol. Testicular tissues from both groups were processed for paraffin embedding for routine staining. Another set of tissues were fixed in Neutral Buffered Formalin for testicular immunostaining techniques for expression of Vimentin, Desmin, Cytokeratin and Smooth Muscle Actin. There is an increase in seminiferous luminal area in the mature catfish testis with the presence of mature spermatozoa in the lumen when compared with immature catfish testis which has small size of lumen with absence of mature spermatozoa. Testicular interstitium thickness remain relatively unchanged. SMA was markedly expressed in the cytoplasm of interstitial Leydig cells in the immature catfish testis whereas it was weak in its expression in the mature catfish. However, SMA was not expressed in the connective tissue proper in the testicular interstitium. Cytokeratin expression was also marked in the testicular capsule of immature catfish but was weak to absent in the mature catfish, however, both mature and immature catfish had moderate cytokeratin expression in their seminiferous tubule basement membrane. Desmin was strongly expressed in cytoplasm of immature germinal cells in the immature catfish testis but was moderate in its expression in the mature catfish testis. Vimentin expression was marked in the cytoplasm of immature germinal cells in both immature and mature catfish testis but weak in its expression in the Sertoli cell cytoplasm of both groups. This study infers that ultra-structural and protein changes can be related to age changes alone apart from the contribution of seasonality and external interference by ecotoxins. The age-related changes seen in this study could set ``baseline information. The extent of contribution of season and other external factors will be better understood. Though the age-related difference might be peculiar to the species of current interest, the differences elucidated are a sound background for relational studies, especially on the effect of ecologic toxins on immature testis, as separate from the mature testis.
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PMID:Age related Histology and Immunohistochemistry of some intermediate filaments in the Testis of the African Catfish (Clarias gariepinus). 3234 62