Increased serum transferrin receptor concentrations in Friedreich ataxia.

Abstract:

:Mitochondrial iron accumulation is thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytosolic iron. Decreases in cytosolic iron induce expression of the transferrin receptor, some of which is released into the serum. Here, we demonstrate that serum transferrin receptor concentrations are increased in patients with Friedreich ataxia, which supports the hypothesis that it is a disease of abnormal intracellular iron distribution.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Wilson RB,Lynch DR,Farmer JM,Brooks DG,Fischbeck KH

keywords:

subject

Has Abstract

pub_date

2000-05-01 00:00:00

pages

659-61

issue

5

eissn

0364-5134

issn

1531-8249

journal_volume

47

pub_type

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