DNA methylation patterns associated with konzo in Sub-Saharan Africa

• DOI: 10.1186/s13148-022-01372-x
• Publication Date: 2022-12-19T18:23:31Z
• Authors: Kristen Kocher; Surajit Bhattacharya; Matthew S. Bramble; Daniel Okitundu-Luwa; Dieudonne Mumba N...; Desire Tshala-Kat...; Eric Vilain
• Keywords: 0301 basic medicine; Cassava; DNA methylation; Cyanides; Sub-Saharan Africa; Brief Report; Human Genome; Cyanide; Clinical Sciences; 610; Biological Sciences; DNA Methylation; 3. Good health; Paediatrics and Reproductive Medicine; 03 medical and health sciences; Konzo; 616; Nitriles; Genetics; 2.1 Biological and endogenous factors; Epigenetics; Africa South of the Sahara; Nutrition

AbstractKonzo, a disease characterized by sudden, irreversible spastic paraparesis, affecting up to 10% of the population in some regions of Sub-Saharan Africa during outbreaks, is strongly associated with dietary exposure to cyanogenic bitter cassava. The molecular mechanisms underlying the development of konzo remain largely unknown. Here, through an analysis of 16 individuals with konzo and matched healthy controls from the same outbreak zones, we identified 117 differentially methylated loci involved in numerous biological processes that may identify cyanogenic-sensitive regions of the genome, providing the first study of epigenomic alterations associated with a clinical phenotype of konzo.