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


CONCLUSIONS
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.
Zatterale
Adriana
A
Department of Genetics, Elena d'Aosta Hospital, I-80136 Naples, Italy.
Kelly
Frank J
FJ
Degan
Paolo
P
d'Ischia
Marco
M
Pallardó
Federico V
FV
Calzone
Rita
R
Dunster
Christina
C
Lloret
Ana
A
Manini
Paola
P
Coğulu
Ozgur
O
Kavakli
Kaan
K
Pagano
Giovanni
G
D000080242:8-Hydroxy-2'-Deoxyguanosine; D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000032:analysis; D001816:Bloom Syndrome / Q000378:metabolism*; D002648:Child; D003849:Deoxyguanosine / Q000031:analogs & derivatives / Q000032:analysis / Q000097:blood; D005260:Female; D005978:Glutathione / Q000032:analysis / Q000097:blood; D019803:Glutathione Disulfide / Q000097:blood; D006801:Humans; D007962:Leukocytes / Q000737:chemistry; D008297:Male; D008875:Middle Aged; D010084:Oxidation-Reduction; D018384:Oxidative Stress; D010290:Parents; D010641:Phenotype
D015415:Biomarkers; D000080242:8-Hydroxy-2'-Deoxyguanosine; D003849:Deoxyguanosine; D005978:Glutathione; D019803:Glutathione Disulfide