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Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy.

Liedewei Van de Vondel1,2,3, Gyu S Lee4, Jonathan De Winter1,2,5

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Summary
This summary is machine-generated.

Monoallelic variants in 2-oxyglutarate dehydrogenase (OGDH) are linked to late-onset neurological disorders, including ataxia and neuropathy. These OGDH gene mutations cause toxic gain-of-function, impacting protein activity and mitochondrial function.

Keywords:
OGDHataxiamitochondriaoptical atrophyperipheral neuropathy

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Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • 2-oxyglutarate dehydrogenase (OGDH) is crucial for the Krebs cycle.
  • Biallelic OGDH variants cause early-onset neurodevelopmental disorders.
  • Monoallelic OGDH variants were not previously linked to human disease.

Purpose of the Study:

  • Investigate the role of monoallelic OGDH variants in late-onset neurological diseases.
  • Determine the functional impact of identified OGDH variants in vivo.

Main Methods:

  • Identified de novo and heterozygous OGDH variants in patients with neurological phenotypes.
  • Utilized in silico protein structure prediction.
  • Generated Drosophila models expressing homologous OGDH mutations.
  • Assessed OGDH activity, protein processing, and mitochondrial import in Drosophila models.

Main Results:

  • Identified OGDH variants p.Arg637Trp and p.Ser54Arg in unrelated individuals with cerebellar ataxia, peripheral neuropathy, and optic atrophy.
  • Drosophila models with OGDH mutations showed age-dependent locomotion defects.
  • p.Arg639Trp (homologous to p.Arg637Trp) impaired OGDH activity.
  • p.Thr58Arg (homologous to p.Ser54Arg) resulted in abnormal proteolytic cleavage and impaired mitochondrial import.

Conclusions:

  • Monoallelic OGDH variants can cause late-onset neurological disorders.
  • The identified variants act as dominant-negative or toxic gain-of-function mutations.
  • This study expands the genotypic and phenotypic spectrum of OGDH-related disorders.