Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics.
Pediatr Neurol
; 143: 68-76, 2023 06.
Article
in En
| MEDLINE
| ID: mdl-37018879
ABSTRACT
BACKGROUND:
Kearns-Sayre syndrome (KSS) is caused by duplications and/or deletions of mitochondrial DNA (mtDNA) and is typically diagnosed based on a classic triad of symptoms with chronic progressive external ophthalmoplegia (CPEO), retinitis pigmentosa, and onset before age 20 years. The present study aimed to diagnose two patients, on suspicion of KSS.METHODS:
One of the patients went through a diagnostic odyssey, with normal results from several mtDNA analyses, both in blood and muscle, before the diagnosis was confirmed genetically.RESULTS:
Two patients presented increased tau protein and low 5-methyltetrahydrofolate (5-MTHF) levels in the cerebrospinal fluid (CSF). Untargeted metabolomics on CSF samples also showed an increase in the levels of free sialic acid and sphingomyelin C160 (d181/C160), compared with four control groups (patients with mitochondrial disorders, nonmitochondrial disorders, low 5-MTHF, or increased tau proteins).CONCLUSIONS:
It is the first time that elevated sphingomyelin C160 (d181/C160) and tau protein in KSS are reported. Using an untargeted metabolomics approach and standard laboratory methods, the study could shed new light on metabolism in KSS to better understand its complexity. In addition, the findings may suggest the combination of elevated free sialic acid, sphingomyelin C160 (d181/C160), and tau protein as well as low 5-MTHF as new biomarkers in the diagnostics of KSS.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Kearns-Sayre Syndrome
Type of study:
Diagnostic_studies
Limits:
Adult
/
Humans
Language:
En
Journal:
Pediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2023
Document type:
Article