AFRICAN, NATIVE-AMERICAN, AND EUROPEAN MITOCHONDRIAL DNAS IN CUBANS FROM PINAR-DEL-RIO PROVINCE AND IMPLICATIONS FOR THE RECENT EPIDEMIC NEUROPATHY IN CUBA

Genetic predisposition, particularly specific mitochondrial DNA (mtDNA ) backgrounds, has been proposed as a contributing factor in the expre ssion of an epidemic of bilateral optic neuropathy that has affected r esidents of Cuba since 1991. To substantiate or refute the possibility that specific subsets of mtDNAs could participate in disease expressi on, we took advantage of the heterogeneous ethnic origin of the Cuban population and the recent identification of a number of mtDNA polymorp hisms that appear to be specific for Africans, Native Americans, and E uropeans. The screening of both carefully selected people with epidemi c neuropathy and control subjects from the Pinar del Rio Province for these polymorphisms revealed that African, Native American, and Europe an mtDNA haplotypes were equally represented among case and control su bjects, and suggested that similar to 50% of Cuban mtDNAs originated f rom Europeans, 46% from Africans, and 4% from Native Americans. These findings demonstrate that mutations arising in specific mtDNAs are unl ikely to play a role in the epidemic neuropathy and indicate that anal ysis of mtDNA haplotypes can be a valuable tool for assessing the rela tive maternal contribution of Africans, Native Americans, and European s in a mixed population. (C) 1995 Wiley-Liss, Inc.