RESUMEN
BACKGROUND: Acephalic spermatozoa is an extremely rare type of teratozoospermia that is associated with male infertility. Several genes have been reported to be relevant to acephalic spermatozoa. Thus, more genetic pathogenesis needs to be explored. METHODS: Whole-exome sequencing was performed in a patient with acephalic spermatozoa. Then Sanger sequencing was used for validation in the patient and his family. The patient's spermatozoa sample was observed by papanicolaou staining and transmission electron microscopy. Western blot and immunofluorescence were performed to detect the level and localization of related proteins. RESULTS: A novel homozygous frameshift insertion mutation c.545dupT;p.Ala183Serfs*10 in exon 8 of TSGA10 (NM_001349012.1) was identified. Our results showed misarranged mitochondrial sheath and abnormal flagellum in the patient's spermatozoa. TSGA10 failed to be detected in the patient's spermatozoa. However, the expression of SUN5 and PMFBP1 remained unaffected. CONCLUSION: These results suggest that the novel homozygous frameshift insertion mutation of TSGA10 is a cause of acephalic spermatozoa.
Asunto(s)
Proteínas del Citoesqueleto/genética , Mutación con Pérdida de Función , Espermatozoides/ultraestructura , Teratozoospermia/genética , Adulto , Femenino , Flagelos/ultraestructura , Mutación del Sistema de Lectura , Homocigoto , Humanos , Masculino , Mitocondrias/ultraestructura , Linaje , Fenotipo , Teratozoospermia/patologíaRESUMEN
OBJECTIVE: To study the anti-inflammatory and analgesic actions of Aike Mixture (AKM). METHODS: A total of 100 male mice were randomly assigned into 5 groups: a normal control group, a drug control group (a hydrocortisone subgroup and an atropine subgroup), a high-dose AKM group, a mid-dose AKM group and a low-dose AKM group. Xylene was spread on the left ear of the experimental mice to induce inflammation, and 1% acetic acid solution injected into the abdominal cavity to produce pain so as to cause the body bend. Different doses of AKM were given and their actions observed. RESULTS: AKM had obvious anti-inflammatory effect on the xylene-induced ear tumefaction and inhibited the pain-caused body bend in the AKM groups, with significant difference from the normal control (P < 0.01). CONCLUSION: AKM has good anti-inflammatory and analgesic effects, which is of clinical significance in the treatment of chronic prostatitis.