Phenotype Heterogeneity and Genotype Correlation of MAPT Mutations in a Chinese PUMCH Cohort

Author(s):  
Chenhui Mao ◽  
Liling Dong ◽  
Jie Li ◽  
Xinying Huang ◽  
Dan Lei ◽  
...  
2021 ◽  
Vol 10 (8) ◽  
pp. 1552
Author(s):  
Guilaine Boursier ◽  
Cécile Rittore ◽  
Florian Milhavet ◽  
Laurence Cuisset ◽  
Isabelle Touitou

Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene (MVK) and encompass several phenotypically different rare and hereditary autoinflammatory conditions. The most serious is a recessive systemic metabolic disease called mevalonic aciduria, and the most recently recognized is disseminated superficial actinic porokeratosis, a dominant disease limited to the skin. To evaluate a possible correlation between genotypes and (1) the different MKAD clinical subtypes or (2) the occurrence of severe manifestations, data were reviewed for all patients with MVK variants described in the literature (N = 346), as well as those referred to our center (N = 51). The genotypes including p.(Val377Ile) (homozygous or compound heterozygous) were more frequent in mild systemic forms but were also sometimes encountered with severe disease. We confirmed that amyloidosis was more prevalent in patients compound heterozygous for p.(Ile268Thr) and p.(Val377Ile) than in others and revealed new associations. Patients homozygous for p.(Leu264Phe), p.(Ala334Thr) or compound heterozygous for p.(His20Pro) and p.(Ala334Thr) had increased risk of severe neurological or ocular symptoms. All patients homozygous for p.(Leu264Phe) had a cataract. The variants associated with porokeratosis were relatively specific and more frequently caused a frameshift than in patients with other clinical forms (26% vs. 6%). We provide practical recommendations focusing on phenotype–genotype correlation in MKAD that could be helpful for prophylactic management.


2020 ◽  
Vol 18 (Suppl.1) ◽  
pp. 130-137
Author(s):  
R. Yordanova ◽  
S. Stanilova

Purpose - compare the phenotype and genotype correlation of cytolysin and gelatinase production in clinical isolates Enterococcus spp. Materials and methods - 100 Enterococcus strains collected over a period of one year from inpatients of two Bulgarian university hospitals, were tested for phenotype production of cytolysin and gelatinase. Multiplex PCR was performed to screen the presence of gelE and cylA virulence genes. Results – 17% of the enterococcal isolates demonstrated only cytolysin production phenotypically. Gelatinase activity was found in 21% of the isolates. Only E. faecalis showed combined phenotypic production of cytolysin plus gelatinase (21%). Forty-five percent of the tested enterococci were identified negative for both hemolysin and gelatinase activity. GelE was the most prevalent virulent gene (48% of the isolates). CylA gene was present alone only in four non-invasive E. faecalis isolates. Twenty-six percent of the isolates possessed both cylA and gelE genes and 21% did not harbor any of the virulence factors genotypically. Conclusion - our results prove that it is appropriate to perform both phenotypic and genotypic analysis of the enterococci virulence profile in parallel in order to better characterize the strains, which in turn may serve to develop more effective methods to limit the spread of infections caused by these microorganisms.


2020 ◽  
Vol 11 (12) ◽  
pp. 866-880 ◽  
Author(s):  
Xin Shao ◽  
Xiaoyan Lu ◽  
Jie Liao ◽  
Huajun Chen ◽  
Xiaohui Fan

AbstractFor multicellular organisms, cell-cell communication is essential to numerous biological processes. Drawing upon the latest development of single-cell RNA-sequencing (scRNA-seq), high-resolution transcriptomic data have deepened our understanding of cellular phenotype heterogeneity and composition of complex tissues, which enables systematic cell-cell communication studies at a single-cell level. We first summarize a common workflow of cell-cell communication study using scRNA-seq data, which often includes data preparation, construction of communication networks, and result validation. Two common strategies taken to uncover cell-cell communications are reviewed, e.g., physically vicinal structure-based and ligand-receptor interaction-based one. To conclude, challenges and current applications of cell-cell communication studies at a single-cell resolution are discussed in details and future perspectives are proposed.


Neurology ◽  
2006 ◽  
Vol 66 (5) ◽  
pp. 759-761 ◽  
Author(s):  
M.C.F. Gerrits ◽  
E. M.J. Foncke ◽  
R. de Haan ◽  
K. Hedrich ◽  
Y. L.C. van de Leemput ◽  
...  

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