mtDNA single macrodeletions associated with myopathies: Absence of haplogroup‐related increased risk

• Published in: Journal of inherited metabolic disease Vol. 28; no. 5; pp. 769 - 778
• Main Authors: Goios, A., Nogueira, C., Pereira, C., Vilarinho, L., Amorim, A., Pereira, L.
• Format: Journal Article
• Language: English
• Published: Dordrecht Kluwer Academic Publishers 01.01.2005; Springer; Blackwell Publishing Ltd
• Subjects: Adolescent; Adult; Aged; Animals; Biological and medical sciences; Child; DNA, Mitochondrial - genetics; Female; Gene Deletion; Genetic Variation; Genome; Haplotypes; Humans; Infant, Newborn; Male; Medical genetics; Medical sciences; Metabolic diseases; Middle Aged; Mitochondrial Myopathies - genetics; Muscular Diseases - genetics; Muscular Diseases - pathology; Mutation; Polymorphism, Genetic; Risk; Association; Nutrition; Risk factor; Genetics; Metabolic diseases; Risk; Mitochondrial DNA; Epidemiology; Genetic disease; Myopathy
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-005-0023-z

Summary As for any non‐recombining genome, any mutation at mtDNA, if not recurrent, appears on a particular haplotype background, allowing its detection by haplogroup association studies. It has been shown that the propensity for occurrence of single macrodeletions at a level beyond the pathological threshold is associated with super‐haplogroup U/K. However, in this report, we present evidence for the absence of preferential haplogroup backgrounds for single macrodeletions. We have analysed how haplogroup diagnostic polymorphisms could disrupt direct repeats usually flanking the deleted segment, and we have concluded that for the Common Deletion, no such polymorphisms are observed in humans, but they do occur in other primates. Furthermore, we also report five new single macrodeletions.