Cancer 2013(9)-1

 

Antioxidant Effects of Potassium Ascorbate with Ribose In Costello Syndrome

CECILIA ANICHINI 1, FEDERICA LOTTI1, ALICE PIETRINI2, CATERINA LO RIZZO3, MARIANGELA LONGINI1, FABRIZIO PROIETTI1, COSETTA FELICI1 and GIUSEPPE BUONOCORE1

Departments of  1Molecular and Developmental Medicine, 2Medicine and Immunological Sciences, Division of Hematology 3Biotechnology, Section of Medical Genetics, University of Siena, Siena, Italy

Anticancer Res. 2013 Feb;33(2):691-5.

 

Abstract

BACKGROUND. Costello syndrome is a rare genetic condition characterized by coarse facies, short stature, loose folds of skin especially on hands and feet, severe feeding difficulties and failure to thrive. Other features include cardiac anomalies, developmental disability and increased risk of neoplasms. Given the link between oxidative stress (OS) and carcinogenesis, we tested the hypothesis that OS occurs in this syndrome, supposing its role both in cancer development and in other clinical features.

PATIENTS AND METHODS. We describe four cases with Costello syndrome in which we verified the presence of OS by measuring a redox biomarker profile including total hydroperoxides, non protein-bound iron, advanced oxidation protein products, thyols, carbonyl groups and isoprostanes. Thus, we introduced an antioxidant agent, namely potassium ascorbate with ribose (PAR) into the therapy and monitored the redox profile every three months to verify its efficacy.

RESULTS. OS values were higher in patients than in the controls, suggesting the need for protection from OS. PAR therapy started immediately after OS was ascertained and was given once a day as a continuous therapy. A progressive reduction of OS biomarkers was observed in parallel with an improvement of clinical aspects in all treated patients. In particular, we observed an improvement of skin and appendages aspects, no progression of cardiac aspects and even noted regression of heart hypertrophy in one of the patients. None of the patients treated with PAR has developed tumors so far. No side-effects, nor ingestion problems were detected during the treatment.

CONCLUSION. OS was proven in all four cases of Costello syndrome. The antioxidant therapy with PAR demonstrated positive effects. These promising results need further research to confirm the relevance of OS and the efficacy of PAR therapy in Costello syndrome.

 

Supplementary picture:

Federica Lotti-1

Female patient after the administration of PAR therapy. She presented a marked improvement in the aspect of skin and appendages, attenuation of gargoylic aspects and improvements in hair anomalies.

 

Table I. Values of markers of oxidative stress before and after antioxidant administration in our patients. (IP2: isoprostanes; TH: total hydroperoxides; AOPP: advanced oxidation protein products; CO: carbonyl groups; NPBI: non protein-bound iron)

MARKER/PATIENT

AT DIAGNOSIS

AT 3 MONTHS

AT 6 MONTHS

IP2 (pg/ml)

1

1091

287

90

2

2000

369

150

3

1773

120

60

4

1502

TH (CARR U)

 

 

 

1

1040

620

358

2

394

350

287

3

462

380

300

4

502

AOPP (μmol/l)

 

 

 

1

47,5

35

29

2

70

67

32

3

61

61

35

4

68

Thiols (μmol/l)

 

 

 

1

107

320

483

2

181

214

400

3

109

400

520

4

150

CO (nmol/l)

 

 

 

1

0,1

0,14

0,1

2

0,1

0,1

0,1

3

0,1

0,1

0,1

4

0,1

NPBI (μmol/l)

 

 

 

Patient 1

0,7

0

0

Patient 2

1,2

0

0

Patient 3

1,55

0

0

Patient 4

1,60

 

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