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A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

Cansu Altuntaş1, Tugce Aksu Uzunhan2, Biray Ertürk3

  • 1Istinye University Medical Faculty, Pediatric Gastroenterology Department, Istanbul, Turkey.

Clinical Neurology and Neurosurgery
|April 21, 2023
PubMed

Insights

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a genetic disorder. This study identifies a POLG1 gene mutation causing MNGIE-like symptoms and leukoencephalopathy in a young patient.

Area of Science:

  • Genetics
  • Neurology
  • Mitochondrial Biology

Background:

  • Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare genetic disorder.
  • It is characterized by progressive mitochondrial dysfunction.
  • Mutations in the thymidine phosphorylase (TYMP) gene are the classic cause of MNGIE.

Observation:

  • A female patient presented with early-onset MNGIE-like symptoms and leukoencephalopathy.
  • Genetic analysis revealed homozygous mutations in the POLG1 gene.
  • POLG1 encodes the catalytic subunit of mitochondrial DNA polymerase.

Findings:

  • The patient's POLG1 mutation, previously associated with MNGIE-like syndrome (MDS4b), caused classic MNGIE features including leukoencephalopathy.
  • This challenges the notion that POLG1 mutations typically lack leukoencephalopathy.
  • Homozygous POLG1 mutations can present as classic MNGIE.

Implications:

  • This case expands the clinical spectrum of POLG1-related disorders.
  • It highlights the importance of considering POLG1 in patients with MNGIE and leukoencephalopathy.
  • Further research is needed to understand genotype-phenotype correlations in POLG1 mutations.
Keywords:
GastroparesisInherited peripheral neuropathyLeukoencephalopathyMNGIE syndromeMitochondrial DNA Depletion Syndrome

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