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Ann Clin Transl Neurol. 2019 Feb 21;6(4):812-816. doi: 10.1002/acn3.728. eCollection 2019 Apr.

Identification of a novel missense mutation in Friedreich's ataxia -FXNW 168R.

Author information

1
University of Pennsylvania Philadelphia Pennsylvania.
2
Division of Neurology Children's Hospital of Philadelphia Philadelphia Pennsylvania.

Abstract

Friedreich's ataxia, characterized by decreased expression of frataxin protein, is caused by GAA trinucleotide repeats within intron 1 in 98% of patients. Two percent of patients carry GAA repeats in conjunction with a point mutation. In this work, we find that frataxinW168R, a novel disease-causing missense mutation, is expressed predominantly as the intermediate frataxin42-210 form, with very little expression of mature frataxin81-210 form. Its localization to mitochondria is not impaired. Additionally, increasing frataxinW168R precursor levels do not lead to an increase in mature frataxin levels, suggesting these patients will require alternative approaches to repair frataxin processing in order to treat the disorder in a disease-modifying manner.

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