Mitochondrial disorders: Understanding mitochondrial DNA point mutations and deletion syndromes

Beth Heuer*, Diane C. Seibert, Kenneth Wysocki, Diane Seibert

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish
Pages (from-to)954-956
Number of pages3
JournalJournal of the American Association of Nurse Practitioners
Volume34
Issue number8
DOIs
StatePublished - 5 Aug 2022
Externally publishedYes

Keywords

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

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