J Korean Child Neurol Soc.  2018 Mar;26(1):7-12. 10.26815/jkcns.2018.26.1.7.

Leigh Syndrome: Subgroup Aanalysis according to Mitochondrial DNA Mutation

• Jee NL
• Her SM
• Kim SH
• Lee MJ
• Lee CH
• Lee YM

• KMID: 2435267
• DOI: http://doi.org/10.26815/jkcns.2018.26.1.7

Abstract

PURPOSE
Leigh syndrome (LS) is a rare, progressive neurodegenerative disorder with characteristic abnormalities in the central nervous system. Such patients present with heterogeneous clinical symptoms and genetic abnormalities; thus, prognosis is difficult to anticipate. The present study investigates whether distinct patient characteristics are associated with mitochondrial DNA (mtDNA) mutation in LS patients.
METHODS
We retrospectively analyzed data from patients diagnosed with LS at our hospital who were assessed using genomic sequencing of mtDNA. A subgroup analysis was performed to divide patients according to the mtDNA sequencing results.
RESULTS
Among the 85 patients enrolled, 18 had mtDNA mutations. Most patients had lactic acidosis and a lactate/pyruvate ratio above 20, indicating respiratory chain abnormalities. In the subgroup analysis, the mutation group had a significantly higher female-to-male ratio, alanine level, ocular involvement, and midbrain and medulla abnormalities on magnetic resonance imaging (MRI).
CONCLUSION
The subgroup analysis indicates that mtDNA sequencing is recommended for female patients, or those who exhibit ocular involvement, high alanine levels, or MRI findings with lesions in the midbrain and medulla.

Keyword

Mitochondria; Mitochondrial DNA; Leigh syndrome; Alanine; Brainstem

MeSH Terms

Acidosis, Lactic
Alanine
Brain Stem
Central Nervous System
DNA, Mitochondrial*
Electron Transport
Female
Humans
Leigh Disease*
Magnetic Resonance Imaging
Mesencephalon
Mitochondria
Neurodegenerative Diseases
Prognosis
Retrospective Studies
Alanine
DNA, Mitochondrial