Does a dominant mutation in hexokinase 1 ( HK1 ) cause retinitis pigmentosa?
We identified an HK1 mutation in five adRP families. Hexokinase 1 catalyzes phosphorylation of glucose to glucose-6-phosphate. HK1 is expressed in retina, with two abundant isoforms expressed at similar levels. The Glu847Lys mutation is located at a highly conserved position in the protein, outside the catalytic domains. We hypothesize that the effect of this mutation is limited to the retina, as no systemic abnormalities in glycolysis were detected. Prevalence of the HK1 mutation in our cohort of RP families is 1%.
There is significant variation in use and quality of PLND at cystectomy in routine practice. Node counts are independently associated with long-term survival, and this association is persistent despite adjustment for provider-related variables. These results suggest that lymph node counts are a valid quality indicator of surgical care of muscle-invasive bladder cancer.