RESUMO
Platelets from patients with various genetically determined forms of photoreceptor dystrophy and with the clinical manifestations of retinitis pigmentosa (RP) have been studied. Variations in protein content have been observed, with less than normal in multiplex RP (probably autosomal recessive inheritance) and more in platelets from patients with autosomal dominant RP. This may reflect variation in platelet size or in surface adsorption of plasma proteins. Several patients presented with thrombocytopenia, the mean platelet count for X-linked hemizygote patients, as a group, being significantly lower than normal. Accumulation of 3H-taurine has been studied in platelets incubated in Ca2+-free Krebs bicarbonate medium containing 1.0 microM or 60.0 microM taurine, and in autologous plasma. Although, in general, platelets from patients with RP showed normal taurine uptake, the capacity of the higher affinity carrier was increased in patients with X-linked hemizygote and multiplex disease. In contrast, plasma from patients with X-linked hemizygote RP reduced the platelet tissue to medium ratio, established for 3H-taurine uptake, by 20%. More studies are needed to ascertain whether this represents a reduced taurine uptake or is caused by an increased concentration of taurine in the plasma.
Assuntos
Plaquetas/metabolismo , Retinose Pigmentar/sangue , Taurina/sangue , Adolescente , Adulto , Idoso , Proteínas Sanguíneas/metabolismo , Humanos , Pessoa de Meia-Idade , Retinose Pigmentar/complicações , Retinose Pigmentar/genética , Trombocitopenia/sangue , Trombocitopenia/complicaçõesRESUMO
Mutants of Pseudomonas aeruginosa PAC1 which could grow on L-threonine were isolated. These mutants, like the parent strain, synthesized a biosynthetic threonine deaminase, but its apparent Km value for threonine was higher than that of the enzyme from strain PAC1. These mutants also synthesized an inducible NAD-dependent threonine dehydrogenase, which was not present in the parent strain. No threonine aldolase activity could be detected. The results suggest that the threonine deaminase with lowered affinity for L-threonine, together with L-threonine dehydrogenase, enabled these mutants to utilize L-threonine as the sole source of carbon for growth.