New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases

Nutrition & Metabolism

Review

Ankush Dehlia¹  Mark A. Guthridge¹  Chiara Murgia² 

[1] School of Life and Environmental Sciences, Deakin University, Burwood, Australia;The School of Agriculture, Food and Ecosystem Sciences (SAFES), Faculty of Science, The University of Melbourne, Parkville, Australia;

关键词: Nutrigenomics;    Micronutrients;    Vitamin;    Metabolism;    Personalised nutrition;   

DOI  :  10.1186/s12986-023-00764-x

 received in 2023-06-15, accepted in 2023-10-04,  发布年份 2023

来源: Springer

【 摘 要 】

Riboflavin, or vitamin B2, is an essential nutrient that serves as a precursor to flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN). The binding of the FAD and/or FMN cofactors to flavoproteins is critical for regulating their assembly and activity. There are over 90 proteins in the human flavoproteome that regulate a diverse array of biochemical pathways including mitochondrial metabolism, riboflavin transport, ubiquinone and FAD synthesis, antioxidant signalling, one-carbon metabolism, nitric oxide signalling and peroxisome oxidative metabolism. The identification of patients with genetic variants in flavoprotein genes that lead to adult-onset pathologies remains a major diagnostic challenge. However, once identified, many patients with adult-onset inborn errors of metabolism demonstrate remarkable responses to riboflavin therapy. We review the structure:function relationships of mutant flavoproteins and propose new mechanistic insights into adult-onset riboflavin-responsive pathologies and metabolic dysregulations that apply to multiple biochemical pathways. We further address the vexing issue of how the inheritance of genetic variants in flavoprotein genes leads to an adult-onset disease with complex symptomologies and varying severities. We also propose a broad clinical framework that may not only improve the current diagnostic rates, but also facilitate a personalized approach to riboflavin therapy that is low cost, safe and lead to transformative outcomes in many patients.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

【 图 表 】

Fig. 13

12951_2017_292_Article_IEq1.gif

Fig. 2