👤 Abdullah Sezer

This study investigated the therapeutic potential of exercise training and the associated role of Glycosylphosphatidylinositol-specific phospholipase D1 (GPLD1) in an experimental Alzheimer’s disease (AD) model. Using a D-galactose/AlCl [Image: see text] Show less

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by impaired catabolism of branched-chain amino acids (BCAAs). The genes BCKDHA, BCKDHB, DBT, and DLD encode the subunits of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex, which is essential for BCAA metabolism. Catalytic subunits are BCKDHA, BCKDHB, DBT, and DLD, whereas the regulator subunits are PPM1K and BCKDK. PPM1K plays a critical role by dephosphorylating and activating this enzyme complex. Pathogenic variants in the PPM1K gene cause an extremely rare, mild form of MSUD. Here, we report an 8-year-old male patient with a mild form of MSUD putatively caused by a novel homozygous variant in PPM1K. The patient presented with mild dysmorphic features, delayed speech, relative microcephaly, and overweight, all considered familial phenotypic traits. Laboratory findings revealed mildly elevated plasma branched-chain amino acids, mild lactic acidemia, and a slight increase in urinary keto acids. Exome sequencing identified a novel homozygous missense variant, c.925A>G p.(Ile309Val), in the PPM1K gene. This case represents the third reported patient with a mild form of MSUD associated with the first reported missense variant in the PPM1K gene in the literature, further expanding the clinical and genetic spectrum of PPM1K-related disorders. Show less

To detect changes in serum lipoprotein and apolipoprotein profiles via precipitation and electrophoresis in ketotic cows and in those cows treated with different methods. 21 cows with clinical and subclinical ketosis, 7 healthy cows in the early lactation period, and 7 healthy cows in the nonlactation period. Ketotic cows were allocated into 3 groups; the first group was treated with dextrose and dexamethasone, the second group with dextrose and prednisolone, and the third group with dextrose and insulin. The beta and alpha lipoproteins were precipitated with dextran sulfate-magnesium chloride in ketotic cows after treatment and healthy cows in the nonlactation and lactation periods. The serum samples, precipitates, and supernatants were examined via agarose gel electrophoresis for detection of alterations in serum lipoproteins. Subsequently, alterations in serum apolipoproteins were detected via SDS-PAGE of precipitates. Compared with serum beta and alpha lipoprotein concentrations in healthy cows during nonlactation, those in cows during lactation were higher; however, those in cows with ketosis were lower. The SDS-PAGE analysis of serum beta lipoproteins revealed that apolipoprotein E (approx 36 and 40 kDa) decreased in ketotic cows, in comparison with healthy cows in the nonlactation and lactation periods, but increased after treatment. Decreases in apolipo-protein B (approx 222 kDa), apolipoprotein A-I (19 and 24 kDa), apolipoprotein A-IV (55 kDa), apolipoprotein C-III (8.8 and 10.2 kDa), and albumin (66 kDa) concentrations were detected in ketotic cows, in comparison with the healthy cows in the lactation period. Serum lipoprotein and apolipoproteins may routinely be determined via precipitation and electrophoresis in the diagnosis and treatment of ketosis. Show less