Can a Micronutrient Mixture Delay the Onset and Progression of Symptoms of Single-Point Mutation Diseases?

Abstract

Single-point mutation diseases in which substitution of one nucleotide with another in a gene occurs include familial Alzheimer's disease (fAD), familial Parkinson's disease (fPD), and familial Creutzfeldt-Jacob disease (fCJD) as well as Huntington's disease (HD), sickle cell anemia, and hemophilia. Inevitability of occurrence of these diseases is certain. However, the time of appearance of symptoms could be influenced by the diet, environment, and possibly other genetic factors. There are no effective approaches to delay the onset or progression of symptoms of these diseases. The fact that increased oxidative stress and inflammation significantly contribute to the initiation and progression of these point mutation diseases shows that antioxidants could be useful. The major objectives are (a) to present evidence that increased oxidative stress and chronic inflammation are associated with selected single-point mutation diseases, such as fAD, fPD, and fCJD, HD, sickle cell anemia, and hemophilia; (b) to describe limited studies on the role of individual antioxidants in experimental models of some of these diseases; and (c) to discuss a rationale for utilizing a comprehensive mixture of micronutrients, which may delay the development and progression of symptoms of above diseases by simultaneously reducing oxidative and inflammatory damages.

Decreased antioxidant capacity with serum native thiol and total thiol levels in children with hemophilia A: a prospective case-control study

“…2,3 In-vitro studies and experimental models have suggested an important role of increased oxidative stress in the emergence and Decreased antioxidant capacity with serum native thiol and total thiol levels in children with hemophilia A: a prospective case-control study progression of symptoms in several singlepoint mutation diseases, including hemophilia A. 4 Misfolding of newly synthesized Factor VIII in the endoplasmic reticulum triggers a pathway cited as unfolded protein respond, which in turn induces apoptosis by increasing oxidative stress. The reaction could be reversed with antioxidant treatment in-vitro and in mice.…”