Keywords

DNA, Kearns-Sayre Syndrome, Leigh disease, mitochondrial, mitochondrial diseases, NARP syndrome

Authors

1. Heuer, Beth DNP, CRNP, CPNP-PC, PMHS (Associate Professor Clinical Instruction)
2. Seibert, Diane C. PhD, ARNP, FAANP, FAAN (Professor & Associate Dean Academic Affairs)

Abstract

ABSTRACT: Mitochondrial disorders arise from DNA mutations in either the mitochondrial DNA (mtDNA) or nuclear DNA genomes. This article focuses on a mtDNA base-pair mutation associated with neuropathy, ataxia, and retinitis pigmentosa and Leigh syndrome and the large-scale mtDNA deletion associated with Kearns-Sayre syndrome. Disease sequelae and management strategies are reviewed, along with implications for the nurse practitioner in primary or specialty care.