ISOGG“Our finding multiple high‐level and sub‐haplogroup contexts of causal mtDNA pathogenic variants in PMD patients proves that although a possible contributor, the modifying effects of haplogroup context are not a main driver of the diagnostic disparities evident for African patients.” #DNA #Haplogroup #HaplogroupL #isogg #mitochrondria #PMD #mtDNA https://pmc.ncbi.nlm.nih.gov/articles/PMC12254466/
Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups
Primary mitochondrial diseases (PMD) are caused by pathogenic variants in over 350 genes, 37 of which are located in mitochondrial DNA (mtDNA). While more than 100 mtDNA variants have confirmed disease associations, there are few reports of ...