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RESEARCH PROJECT: GLYCOGEN STORAGE DISEASE TYPE I AND ATHEROSCLEROSIS

RESEARCH PROJECT: GLYCOGEN STORAGE DISEASE TYPE I AND ATHEROSCLEROSIS. a multicentre study. BACKGROUND. Glycogen storage disease (GSD) type I is characterized by hypoglycaemia, hyperuricemia, hyperlactatemia and hyperlipidemia

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RESEARCH PROJECT: GLYCOGEN STORAGE DISEASE TYPE I AND ATHEROSCLEROSIS

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  1. RESEARCH PROJECT:GLYCOGEN STORAGE DISEASE TYPE I AND ATHEROSCLEROSIS a multicentre study

  2. BACKGROUND • Glycogen storage disease (GSD) type I is characterized by hypoglycaemia, hyperuricemia, hyperlactatemia and hyperlipidemia • Despite appropriate dietary treatment GSD I patients often show a lipid profile similar to that found in people who have a significant risk of atherosclerosis [T. Geberhiwot et al. 2007]

  3. BACKGROUND GSD I patients can have other important cardiovascular risk factors: • obesity • microalbuminuria • hypertension • insulin resistance

  4. BACKGROUND In diabetic patients high glycemic levels induce the formation of Advanced Glycation End products (AGE) AGE-RAGE interaction triggers an increase of reactive oxygen species The imbalance between free radicals and antioxidant defences is fundamental in determining atherosclerosis [Giuliano et al. 1996]

  5. Is GSD I associated with atherosclerosis? Several studies until 2007 concluded that the answer is NO! Possible explanation: • more antioxidant defence[Wittenstein et al 2002] • reduced platelet function [Muhlhausen et al 2005] • increased cholesterol efflux[Nguyen D et al 2005] • Increased adiponectin [Tamaki T. et al 2007] • low levels of AGE [den Hollander et al 2007]

  6. Is GSD I associated with atherosclerosis ? More recent studies concluded that the answer is YES!! • Yekeler et al 2007: studyincluding 13 patients with GSD Ia • Bernier et al 2009: studyincluding 28 patients (age 13-41) with GSD Ia and Ib significant increase in carotidIMT in GSD subjects compared with healthy controls

  7. OBJECTIVES • To evaluate the presence or absence of atherosclerosis in GSD type I in a larger cohort of patients then in previous studies • To examine possible pathogenic or protective factors influencing atherosclerosis, focusing our attention on the non-enzymatic glycation of proteins and the oxido-reductive balance

  8. SUBJECTS AND METHODS • Eligible patients with GSD type Ia and Ib who are 13 years or older (without hepatic transplantation) • Healthy non-smoking, control subjects, matched for age and sex (Padua)

  9. SUBJECTS AND METHODS Each participant Centre for each patient will evaluate: • Clinical history, BMI and blood pressure • Routine laboratory analysis (glycemia, lipid profile, renal function, C reactive protein, uric acid, microalbuminuria)

  10. SUBJECTS AND METHODS To evaluate the presence of atherosclerosis: • B-mode ultrasound imaging with estimation of the carotid intima-media thickness (IMT) - Doppler CWwith measurement of the ankle-brachial-pressure index (ABI)

  11. SUBJECTS AND METHODS University of Padua will measure: • AGE, esRAGE, Pentosidine, • Malondialdehyde, Nitrotyrosine • vit A, vit E, Glutathione • ox LDL, Ab antiox LDL

  12. METABOLIC CENTRES CURRENTLY INVOLVED • Policlinico Universitario Padova • Istituto Giannina Gaslini Genova • Ospedale San Paolo Milano • Ospedale San Gerardo Monza • Charles Dent Metabolic Unit London

  13. T H A N K Y O U ! anlisec@tiscali.it

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