As regards the interesting discovery of a novel BRCA1 mutation in a family of Palestinian Arabian origin (Kadouri et al., 2007), we would like to state that all gene mutations bring about necessarily local biological activity modification, otherwise, gene mutations would be meaningless innocent bystanders (Stagnaro-Neri and Stagnaro, 1995; Kadouri et al., 2007; Stagnaro, 2008). In the present a...

Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial cytopathy characterized by bilateral ptosis during adolescence, followed later by limitation of extraocular muscle movement and diplopia.1 The biochemical defect consists of mutations or deletions of mitochondrial DNA genes that encode respiratory chain enzymes involved in adenosine triphosphate (ATP) generation and its subs...

Mitochondrial cytopathy has been associated with modifications of lipid metabolism in various situations, such as the acquisition of an abnormal adipocyte phenotype observed in multiple symmetrical lipomatosis or triglyceride (TG) accumulation in muscles associated with the myoclonic epilepsy with ragged red fibers syndrome. However, the molecular signaling leading to fat metabolism dysregulati...

the “InherIted real rIsk” of lIthIasIs “Quantum Biophysics Semeiotics” (QBS) (Stagnaro and Stagnaro-Neri, 2004a) is a new discipline in the medical field and an extension of the classical semeiotics with the support of quantum and complexity theories. It is a scientific trans-disciplinary approach that is based on the “Congenital Acidosic EnzymeMetabolic Histangiopathy” (CAEMH), a unique mitoch...

INTRODUCTION Mitochondria dysfunction (Leuner et al., 2012) and blood-brain barrier (BBB) impairment (Deane and Zlokovic, 2007) are novel researches and insights into the pathogenesis of Alzheimer’s Disease (AD), which could lead to classification of AD as a neurovascular disease. Furthermore, on the basis of AD there could be an impairment of neurons response to insulin, that explain the incre...

s Journal of the Peripheral Nervous System 5:169–188 (2000) 170 Alpha-lipoic acid (LPA) has marked effects in experimental diabetic neuropathy. Treatment for 2 weeks after 8 weeks of diabetes in rats corrected motor and sensory conduction velocity and endoneurial perfusion deficits with an ED 50 of approximately 40 mg/kg. There was no difference in efficacy between Rand S-enantiomers of LPA. Wh...