Search

Glycogen storage disease type Ia (GSDIa) is an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-α (G6Pase-α). Affected individuals develop renal and liver complications, including the development of hepatocellular adenoma/carcinoma and kidney failure. The purpose of this study was to identify potential biomarkers of the evolution of the disease in GSDIa patients. To this end, we analyzed the expression of exosomal microRNAs (Exo-miRs) in the plasma exosomes of 45 patients aged 6 to 63 years. Plasma from age-matched normal individuals were used as controls. We found that the altered expression of several Exo-miRs correlates with the pathologic state of the patients and might help to monitor the progression of the disease and the development of late GSDIa-associated complications.

Glycogen storage disease type Ib (GSD-Ib), characterized by impaired glucose homeostasis, neutropenia, and neutrophil dysfunction, is caused by a deficiency in glucose-6-phosphate transporter (G6PT). Neutropenia in GSD-Ib has been known to result from enhanced apoptosis of neutrophils. However, it has also been raised that neutrophil maturation arrest in the bone marrow would contribute to neutropenia. We now show that G6pt-/- mice exhibit severe neutropenia and impaired neutrophil differentiation in the bone marrow. To investigate the role of G6PT in myeloid progenitor cells, the G6PT gene was mutated using CRISPR/Cas9 system, and single cell-derived G6PT-/- human promyelocyte HL-60 cell lines were established. The G6PT-/- HL-60s exhibited impaired neutrophil differentiation, which is associated with two mechanisms: i) abnormal lipid metabolism causing a delayed metabolic reprogramming and ii) reduced nuclear transcriptional activity of peroxisome proliferator-activated receptor-γ (PPARγ) in G6PT-/- HL-60s. In this study, we demonstrated that G6PT is essential for neutrophil differentiation of myeloid progenitor cells and regulates PPARγ activity.

There is an urgent need to reduce the CO2 emissions from global shipping. This study developed efficient sea-based CO2 capture, CO2 compression and liquefaction for a 3000 kW diesel engine. Several mixed solvents, an intercooler and multiple feeds are used to improve CO2 removal in the absorber. A square-shape is adopted to reduce space, which is in scarce supply in marine applications. Heat integration is applied to enhance the performance of the stripper. An effective configuration is developed for marine CO2 capture to improve the absorber, stripper, CO2 compression and liquefaction. Mono-ethanolamine/piperazine (MEA/PZ) and N-methyl-diethanolamine (MDEA)/PZ increases by 1.7% and 2.8% in terms of CO2 removal compared to the MEA solution, respectively. The MDEA/PZ process with the intercooler and MDEA/PZ process with multiple feeds achieve 90.6% and 90.5% CO2 removal, respectively. The configuration using MDEA/PZ as a solvent, and the combined use of the intercooler, multiple feeds and heat integration demonstrate advantages for ship-based carbon capture. The CO2 removal for the final configuration is 1348 kg/h (94.7%); this is an 8.4% increase compared to the base case. Additionally savings of 100.0%, 18.3%, and 4.0% are achieved in terms of stripper duty, compressor duty in CO2 compression and CO2 liquefaction, respectively.