Mitochondrial DNA content: A new biomarker for sudden intrauterine unexplained death syndrome (SIUDS)

D Lattuada1, G Alfonsi1, L Roncati2

  • 1"Lino Rossi" Research Center for the Study and Prevention of Unexpected Perinatal Death and SIDS, Department of Biomedical, Surgical and Dental Sciences, University of Milan, Italy.

Mitochondrion
|September 12, 2017
PubMed

Insights

Mitochondrial DNA (mtDNA) content was significantly higher in the cerebral cortex of infants with sudden intrauterine unexplained death syndrome (SIUDS) compared to controls. This suggests elevated mtDNA may be a biomarker for SIUDS pathogenesis.

Area of Science:

  • Perinatal pathology
  • Mitochondrial genetics
  • Neuropathology

Background:

  • Sudden intrauterine unexplained death syndrome (SIUDS) is a poorly understood condition.
  • The role of mitochondria in SIUDS pathogenesis is currently unknown.
  • There is a lack of data on mitochondrial DNA (mtDNA) content in SIUDS.

Purpose of the Study:

  • To investigate the hypothesis that increased mtDNA content contributes to SIUDS.
  • To quantify mtDNA levels in the cerebral cortex of SIUDS cases and controls.

Main Methods:

  • Measurement of mtDNA content in the cerebral cortex.
  • Comparison between 9 SIUDS cases and 7 control cases.
  • Quantitative analysis using copies per nuclear DNA.

Main Results:

  • Significantly higher median mtDNA content in SIUDS cases (14,000 copies/nuclear DNA) compared to controls (3,400 copies/nuclear DNA).
  • The difference in mtDNA content was statistically significant (p=0.007).

Conclusions:

  • Elevated mtDNA content in the cerebral cortex may be associated with SIUDS.
  • Higher mtDNA content could serve as a potential biomarker for SIUDS.
  • Mitochondrial dysfunction warrants further investigation in SIUDS etiology.