ABSTRACT
Objective:To study the expression of miRNA-7 in B lymphocytes of primary Sj?gren's syndrome (pSS) and its relationship with phosphatase andtensin homolog deleted (PETN) and disease activity.Methods:Twenty newly diagnosed outpatient and inpatient pSS patients were used as case group collected from January 2017 to December 2019 of Qinghai Provincial People's Hospital. Twentyhealthy persons were used as the control group. Disease-related indicators of the case group were collected. Quantitative polymerase chain reaction (RT-qPCR)was used to detect miRNA-7 and PETN mRNA expression in B lymphocytes of the two groups and the consistency between miRNA-7 expression in the plasma and B lymphocytes of the case group was analyzed. Western Blotting method was used to detect the PETN protein in B lymphocytes of the two groups. Correlation analysis was used to analyze the relationship between miRNA-7 expression in B lymphocytes and disease activity in the case group. Linear regression analysis was performed between miRNA-7 and PETN mRNA.Results:The expression of miRNA-7 (0.53±0.17) in the B cells increased and the expression of PTEN mRNA (0.88± 0.24) and protein (0.51±0.12) in the case group were reduced compared with that of miRNA-7(0.39±0.11), PTEN mRNA(2.32±0.30) and protein(1.03±0.21) of the control group. The above differences were statistically significant ( t=2.990, P<0.05; t=16.98, P<0.05; t=8.41, P<0.05). Linear regression showedthat PTEN miRNAwas negatively correlated with miRNA-7 ( b=-0.78, P<0.01), the expression of miRNA-7 in the case group was positively related with EULAR Sj?gren′s syndrome Disease Activity Index (ESSDAI), IgG, IgA, anti-SSB and was negatively correlated with C4 and WBC. Conclusion:There is a certain relationship between miRNA-7 and disease activity. MiRNA-7 may participate in the pathogenesis of pSS byregulating PETN in B cells of pSS. MiRNA-7 has certain clinical value for disease activity evaluation.
ABSTRACT
ABSTRACT Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitochondrial ataxias. We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis.
RESUMO As ataxias hereditárias representam um grupo complexo de doenças neurodegenerativas, e se caracterizam por ataxia cerebelar progressiva, associada a sinais e sintomas extra-cerebelares e sistêmicos, os quais incluem: neuropatia periférica, sinais piramidais, distúrbios do movimento, convulsões e disfunção cognitiva. Não existe um tratamento efetivo para a cura das ataxias hereditárias. Até o momento os tratamentos disponíveis são apenas sintomáticos. Nesta revisão vamos abordar tratamento sintomático das principais ataxias autossômicas recessivas, ataxias autossômicas dominantes, ataxias ligadas ao X e ataxias mitocondriais. Descrevemos os diferentes sintomas, abordagens terapêuticas baseadas no mecanismo fisiopatológico, terapia de reabilitação, terapia modificadora da doença, futuros ensaios clínicos, perspectivas, níveis de evidência, aconselhamento genético e diagnóstico genético pré-implantacional.