RESUMO
BACKGROUND: Alzheimer's disease (AD) and mild cognitive impairment (MCI) are two neurodegenerative diseases. Most patients with MCI will develop AD. Early detection of AD and MCI is a crucial issue in terms of secondary prevention. Therefore, more diagnostic models need to be developed to distinguish AD patients from MCI patients. METHODS: In our research, the expression matrix and were screened from Gene Expression Omnibus (GEO) databases. A 14-gene diagnostic model was constructed with lasso logistic analysis. The efficiency and accuracy of diagnostic model have also been validated. In order to clarify the expression differences of 14 genes in health donor, AD and MCI, the blood samples of patients and healthy individuals were collected. The mRNA expression of the 14 genes in blood sample were detected. The SH-SY5Y cell injury model was constructed and biological function of POU2AF1 and ANKRD22 in SH-SY5Y have been proved. RESULTS: We obtained 16 genes which have an area under curve (AUC) ≥0.6. After that, a diagnostic model based on 14 genes was constructed. Validation in independent cohort showed that the diagnostic model has a good diagnostic efficiency. The expressions of 6 genes in AD patients were significantly lower than those in healthy individuals and MCI patients, while the expressions of 8 genes in AD patients were significantly higher than those in healthy individuals and MCI patients. In in vitro experiments, we found that two key genes POU2AF1 and ANKRD22 could regulate neuronal development by regulating cell viability and IL-6 expression. CONCLUSION: The diagnostic model established in this study has a good diagnose efficiency. Most of these genes in diagnostic model also showed diagnostic value in AD patients. This research also can help doctors make better diagnosis for the treatment and prevention of AD.
RESUMO
Two Diaporthe species isolated from fruit of Citrus sinensis in China were characterized based on morphology and multilocus phylogeny of ITS, tef1, and tub2 gene sequences. The phylogeny indicated that the two species match Diaporthe taoicola and D. siamensis. A critical examination of phenotypic characteristics confirmed the phylogenetic results. Diaporthe taoicola was morphologically characterized by producing Alpha conidia with tapering toward both ends. Meanwhile, D. siamensis produced cylindrical or ellipsoidal Alpha conidia with two oil drops. Pathogenicity tests revealed that both species were pathogenic to fruit of C. sinensis. To our knowledge, the two species were firstly reported on Citrus sinensis in China.
RESUMO
OBJECTIVE: To assist the establishment of platform and provide the reference standard for mutation detection in spinocerebellar ataxia (SCA) subtypes 1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese Han population. METHODS: The nucleotide repeat numbers of the 9 SCA subtypes and DRPLA were detected using fluorescence-PCR and capillary gel electrophoresis technique in 300 healthy Chinese Han individuals. RESULTS: Among the 300 healthy controls, the range of the CAG trinucleotide repeat number was 17 to 35 in SCA1, 14-28 in SCA2, 13-41 in SCA3/MJD, 4-16 in SCA6, 5-17 in SCA7, 5-21 in SCA12, 23-41 in SCA17, and 12-33 in DRPLA; and the range of CTA/CTG trinucleotide repeat number on SCA8 locus was 12-43 and the range of ATTCT pentanucleotide repeat number on SCA10 locus was 9-32. Of which, the 12 CTA/CTG repeats of SCA8, 9 ATTCT repeats of SCA10, 23 CAG repeats of SCA17 were the shortest normal repeat number, while the 41 CAG repeats of SCA3/MJD, 32 CAG repeats of SCA10 were the largest normal number that have not been reported. CONCLUSION: The normal ranges of polynucleotide repeats of different subtypes of SCA vary with geographical areas and ethnicities. It might be associated with the genetic and ethnic backgrounds. This is the first normal reference standard of polynucleotide repeat number of these ten SCA subtypes in Chinese Han.
