Echinogenic action of L-alpha-lysophosphatidylcholine in Duchenne muscular dystrophy: a study on carrier detection.
The percentage of echinocytes induced after red cell treatment with L-alpha-lysophosphatidylcholine in the blood of 16 patients affected by Duchenne muscular dystropy (DMD) has been evaluated. Moreover, 15 mothers, 10 sisters, and 15 fathers were also included in the study. We found an increased level of echinocytes in dystrophic patients and in known and possible carriers. Correlations were also evaluated between echinocytes and serum enzymes used in DMD diagnosis, showing an increase of echinocytes also in DMD carriers with normal levels of serum creatine kinase, lactate dehydrogenase, and aldolase. Our results suggest that the sensitivity of erythrocytes to L-alpha-lysophosphatidylcholine in DMD could be used as a diagnostic test for carrier detection.
Tangorra
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Istituto di Chimica Biologica, Facoltà di Medicina e Chirurgia, Università degli Studi di Ancona, Italy.
Curatola
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Milani-Comparetti
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Ferretti
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G
D000293:Adolescent; D000328:Adult; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D004910:Erythrocyte Membrane / Q000187:drug effects* / Q000473:pathology; D005260:Female; D005634:Fructose-Bisphosphate Aldolase / Q000097:blood; D006580:Genetic Carrier Screening; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008244:Lysophosphatidylcholines / Q000494:pharmacology*; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree
D008244:Lysophosphatidylcholines; D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase; D005634:Fructose-Bisphosphate Aldolase