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MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy

Matthias Baumann1, Herbert Schreiber2, Beate Schlotter-Weigel3

  • 1Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

Clinical Genetics
|October 10, 2018
PubMed

Insights

Mutations in the MPV17 gene can cause pure axonal neuropathy, a condition affecting peripheral nerves without liver or brain issues. This expands the known spectrum of MPV17-related disorders.

Area of Science:

  • Genetics
  • Mitochondrial Biology
  • Neurology

Background:

  • MPV17 encodes a mitochondrial inner membrane protein crucial for deoxynucleotide homeostasis.
  • MPV17 mutations are linked to Navajo neurohepatopathy, a mitochondrial DNA depletion syndrome with severe multi-systemic effects.
  • Previous reports suggested MPV17 variants in juvenile-onset peripheral neuropathy.

Purpose of the Study:

  • To investigate the role of MPV17 variants in patients presenting with isolated sensorimotor axonal neuropathy.
  • To characterize the clinical and genetic findings in families with MPV17-associated neuropathy.

Main Methods:

  • Clinical evaluation of five patients from two families with sensorimotor axonal neuropathy.
  • Genetic analysis to identify MPV17 variants, including sequencing and variant effect analysis.
  • Phenotypic correlation between MPV17 genotypes and clinical presentation.

Main Results:

  • Five patients with homozygous MPV17 variants presented with sensorimotor axonal neuropathy, notably without hepatocerebral involvement.
  • One family carried the previously identified c.122G>A (p.Arg41Gln) variant.
  • The second family harbored a novel c.376-9T>G near-splice variant, leading to an in-frame deletion of 11 amino acids.

Conclusions:

  • MPV17 mutations are a cause of pure, non-syndromic axonal neuropathy.
  • The phenotypic spectrum of MPV17-related disorders is broader than previously recognized, including isolated peripheral neuropathies.
  • MPV17 should be considered in the genetic workup of unexplained axonal neuropathies.
Keywords:
MPV17MTDPS6NNHNavajo neurohepatopathyaxonal sensorimotor polyneuropathymitochondrial DNA depletion syndrome 6

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