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Twinkle-Associated Mitochondrial DNA Depletion.

Salma Remtulla1, Cam-Tu Emilie Nguyen2, Chitra Prasad3

  • 1Division of Children's Health, Trillium Health Partners, Mississauga, Ontario, Canada.

Pediatric Neurology
|November 5, 2018
PubMed
Summary

Novel mutations in the Twinkle gene cause severe mitochondrial DNA depletion syndrome (MDS) in infants, leading to early-onset encephalopathy and multisystem failure. This genetic disorder requires consideration in diagnosing severe infant illnesses.

Keywords:
C10orf2EncephalopathyHepatocerebral syndromeLiverMitochondrial DNA depletion syndromePEO1TWINKLEmtDNA

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Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatrics

Background:

  • Autosomal recessive mutations in the nuclear Twinkle (C10orf2) gene are linked to mitochondrial DNA depletion syndrome (MDS).
  • MDS is characterized by early-onset hepatoencephalopathy, a severe neurological disorder affecting infants.

Observation:

  • A severe case of early-onset encephalopathy and multisystem failure was observed.
  • The condition was linked to novel recessive mutations in the Twinkle gene.
  • Clinical, laboratory, and pathological data were collected for detailed analysis.

Findings:

  • Patients typically present before six months of age with failure to thrive and psychomotor regression.
  • Key features include epileptic encephalopathy, sensory axonal neuropathy, and cholestatic liver dysfunction.
  • Associated symptoms can involve renal tubulopathy, movement disorders, and ophthalmoplegia, with a high mortality rate before age four.

Implications:

  • MDS should be included in the differential diagnosis for infants presenting with encephalopathy and multisystem failure.
  • Understanding Twinkle gene mutations aids in diagnosing and potentially managing this severe pediatric condition.
  • Further research into Twinkle-associated MDS can improve diagnostic strategies and therapeutic approaches.