Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.

ABSTRACT:

Background

Friedreich ataxia is a progressive multisystem disorder caused by deficiency of the protein frataxin; a small mitochondrial protein involved in iron sulfur cluster synthesis. Two types of frataxin exist: FXN-M, found in most cells, and FXN-E, found almost exclusively in red blood cells. Treatments in clinical trials include frataxin restoration by gene therapy, protein replacement, and epigenetic therapies, all of which necessitate sensitive assays for assessing frataxin levels.

Methods

In the present study, we have used a triple quadrupole mass spectrometry-based assay to examine the features of both types of frataxin levels in blood in a large heterogenous cohort of 106 patients with FRDA.

Results

Frataxin levels (FXN-E and FXN M) were predicted by GAA re

SUBMITTER: Lynch DR 

PROVIDER: S-EPMC12327059 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature