| Autor: |
Ługowska A; Department of Genetics, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland., Baydakova G; Research Centre for Medical Genetics, Federal State Budgetary Institution, 115478 Moscow, Russia., Ilyushkina A; Research Centre for Medical Genetics, Federal State Budgetary Institution, 115478 Moscow, Russia., Zakharova E; Research Centre for Medical Genetics, Federal State Budgetary Institution, 115478 Moscow, Russia., Mierzewska H; Department of Child and Adolescent Neurology, Institute of Mother and Child, 01-211 Warsaw, Poland., Szymańska K; Mossakowski Medical Research Center, Department of Experimental and Clinical Neuropathology, Polish Academy of Sciences, 02-106 Warsaw, Poland., Wierzba J; Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University of Gdańsk, 80-210 Gdańsk, Poland., Kubalska J; Department of Genetics, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland., Graban A; 1st Department of Neurology, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland., Kmieć T; Department of Neurology and Epileptology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Perkowska-Sumiła B; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Tylki-Szymańska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland., Bednarska-Makaruk M; Department of Genetics, Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland. |
| Abstrakt: |
Increased activity of dipeptidyl peptidase IV (DPP-IV) was reported earlier in patients with different types of mucopolysaccharidoses. DPP-IV (also known as CD26 lymphocyte T surface antigen) is a transmembrane protein showing protease activity. This enzyme displays various functions in the organism and plays an important role in multiple processes like glucose metabolism, nociception, cell-adhesion, psychoneuroendocrine regulation, immune response and cardiovascular adaptation. In order to evaluate DPP-IV in lysosomal storage diseases (LSD), we examined its activity in plasma samples from 307 patients affected with 24 different LSDs and in 75 control persons. Our results revealed elevated DPP-IV activity especially in individuals affected with mucolipidosis II/III, alpha-mannosidosis, and mucopolysaccharidoses types III, II, and I ( p < 0.05). In other LSDs the DPP-IV activity was still significantly increased, but to a lesser extent. In patients with Gaucher disease, ceroid lipofuscinosis type 1 (CLN1), Niemann-Pick disease type C and A, Krabbe and Pompe diseases, gangliosidosis GM2 and metachromatic leukodystrophy discreet or no changes in DPP-IV activity were observed. DPP-IV may serve as a first-tier diagnostic procedure or additional biochemical analysis in recognizing patients with some LSDs. DPP-IV may become an object of basic research for a better understanding of LSDs. |
