Oxidative stress biomarkers in four Bloom syndrome (BS) patients and in their parents suggest in vivo redox abnormalities in BS phenotype.

6533b827fe1ef96bd12866b7

RESEARCH PRODUCT

Oxidative stress biomarkers in four Bloom syndrome (BS) patients and in their parents suggest in vivo redox abnormalities in BS phenotype.

Federico V. Pallardó Kaan Kavakli Ozgur Cogulu Marco D'ischia Rita Calzone Paolo Degan Ana Lloret Christina Dunster Adriana Zatterale Paola Manini Frank J. Kelly Giovanni Pagano

subject

Adult Male Parents medicine.medical_specialty glyoxal Adolescent Clinical Biochemistry medicine.disease_cause chemistry.chemical_compound In vivo Internal medicine medicine methylglyoxal Leukocytes Humans Bloom syndrome Child oxidative stre Glutathione Disulfide Methylglyoxal Deoxyguanosine General Medicine Glutathione Middle Aged Ascorbic acid medicine.disease Glutathione Oxidative Stress Endocrinology Phenotype chemistry Biochemistry 8-Hydroxy-2'-Deoxyguanosine Uric acid Glutathione disulfide Bloom syndrome Female Oxidation-Reduction Oxidative stress Biomarkers Bloom Syndrome

description

Objective: To evaluate an association of Bloom syndrome (BS) phenotype with an in vivo prooxidant state. Methods: The following endpoints were measured in 4 BS patients, their 6 parents, and 78 controls: a) leukocyte and urinary 8-hydroxy-2′-deoxyguanosine (8-OHdG); b) blood glutathione (GSSG and GSH), c) plasma levels of some plasma antioxidants (uric acid, UA, ascorbic acid, AA, α- and γ-tocopherol), and of glyoxal (Glx) and methylglyoxal (MGlx). Results: Leukocyte 8-OHdG levels were significantly increased in the 4 BS patients vs. 40 controls (p = 0.04), while the urinary 8-OHdG levels were non-significantly increased in BS patients. Glutathione disulfide levels and GSSG/GSH ratio were significantly decreased in BS patients vs. 44 controls (p = 0.02). The plasma levels of UA in BS patients were significantly increased vs. 24 controls (p = 0.005). No significant alterations were found in the in the plasma levels of Glx, MGlx, AA, and tocopherol. No changes in the tested parameters were found in the BS heterozygotes. Conclusion: This report shows a significant increase in oxidative DNA damage in leukocytes and in plasma UA levels from 4 BS patients. Should these data be confirmed in more extensive BS patient groups, an involvement of oxidative stress in the clinical BS phenotype might be suggested.

year	journal	country	edition	language
2007-01-01	Clinical biochemistry

10.1016/j.clinbiochem.2007.06.003 https://pubmed.ncbi.nlm.nih.gov/17678887