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.
Selected single-point mutation diseases and their pattern of inheritance
Characteristics of each selected single-point mutation disease
Evidence for increased oxidative stress and inflammation in each disease
Potential reasons for failure of single antioxidants in human studies
Rationale for using a comprehensive mixture of micronutrients in delaying the onset and progression of single-point mutation diseases
Key teaching points
Disclosure statement
The author is chief scientific officer of Engage Global of Utah. This company sells nutritional products to consumers. SCB has no conflict.