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FARAFARA Cure FA

Frataxin levels in peripheral tissue in Friedreich ataxia

Have you ever given a blood sample or cheek swab sample for research? This study shares results of frataxin protein measures from more than >500 individuals with FA, including some specific results on frataxin levels in in individuals who have point mutations. This study finds that there was no evidence for change in frataxin levels over time with repeated measures analysis, although linear regression analysis of cross-sectional data predicted a small increase over decades. GAA repeat length predicted frataxin levels in both tissues, and frataxin levels themselves predicted neurological ratings (accounting for age). Compound heterozygous patients for a GAA expansion and a point mutation in FXN generally had lower levels of frataxin than those homozygous for the presence of two GAA repeat expansions, though levels varied dramatically between tissues in some compound heterozygotes for point mutations. The G130V mutation led to decreased levels of frataxin in vitro as well as in vivo, while the R165C mutation produced normal immunoreactive levels of frataxin both in vitro and in vivo. Start codon mutations led to low levels of frataxin in buccal cells but preserved immunoreactive frataxin levels in blood.

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Jen Farmer

Jen Farmer

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