Thermolabile enzymes in progeria and Werner syndrome: evidence contrary to the protein error hypothesis.
To test the hypothesis that widespread errors in protein synthesis underlie diseases with features resembling premature aging, we examined the thermostability of two erythrocyte enzymes in three unrelated progeria families and in two Werner syndrome patients. Unlike previous reports, no increased heat-labile component of glucose-6-phosphate dehydrogenase (G6PD) or 6-phosphogluconate dehydrogenase (6PGD) was found. Our results do not support the protein error hypothesis. Our data raise questions regarding the usefulness of thermolabile enzyme level as a proposed marker for progeria or Werner syndrome.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005819:Genetic Markers; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism*; D006358:Hot Temperature; D006801:Humans; D008297:Male; D010734:Phosphogluconate Dehydrogenase / Q000378:metabolism*; D011371:Progeria / Q000201:enzymology* / Q000209:etiology; D014176:Protein Biosynthesis; D014898:Werner Syndrome / Q000201:enzymology* / Q000209:etiology
D005819:Genetic Markers; D010734:Phosphogluconate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase