Mitochondrial haplogroups are associated with hypertrophic cardiomyopathy in the Indian population

Mitochondrial DNA haplogroup variation in hydrocephalus

“…[11] As ciliary function depends on a multitude of energy-requiring processes; [12] genetic or environmentally induced variation in OXPHOS function, or more broadly, mitochondrial function, [13] could modify the phenotype. This "Bioenergetic paradigm" [14] has been suggested to play a role in metabolic disorders/ biophysical traits, [15,16] neurological diseases, [17] cardiomyopathies, [18,19,20,21,22] psychiatric diseases, [23] cancers, [24] and developmental disorders. [25] Furthermore, HC exhibits many comorbidities, including autism spectrum disease [26] that has been associated with altered mitochondrial function, [27,28] and in some -but not all [29,30] -studies with mtDNA haplogroups.…”

Private Mitochondrial DNA Variants in Danish Patients with Hypertrophic Cardiomyopathy

“…The haplogroup variation has been shown to confer differences in penetrance or expression of clinical cardiovascular phenotypes: i.e. transient ischaemic attack and ischaemic stroke [ 20 ], as well as ischemic cardiomyopathy [ 21 ], HCM [ 22 – 24 ], idiopathic dilated cardiomyopathy [ 25 ] and cardiomyopathy in combination with known disease causing nuclear DNA mutations [ 26 ]. It has been suggested that the association is the result of the occurrence of specific rare “private” variants in mtDNA belonging to a specific haplogroup [ 27 ]; and that younger haplogroups would not have had time to eliminate such variants through evolutionary selection pressure [ 28 , 29 ].…”