Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12).
A male patient with mental retardation and typical clinical features of 10p trisomy syndrome was found to have a duplication of the short arm of chromosome 10 attached to the short arm of the Y chromosome. Quantitative evaluation of nine red cell enzymes showed significantly increased activity levels of HK1 and, to a lesser extent, of PK, PGI, 6PGD, and G6PD. It is suggested that the HK1 locus may be in the 10pter leads to p12 region. The increased levels of HK1 could affect other erythrocyte metabolic pathways slowing down the physiological rate of cellular senescence and result in increased activity levels of other cell-age-dependent enzymes.
D002470:Cell Survival; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D000013:Congenital Abnormalities / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology*; D006593:Hexokinase / Q000097:blood* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D012730:Sex Chromosomes; D013577:Syndrome; D014314:Trisomy; D014998:Y Chromosome
D006593:Hexokinase