Human Molecular Genetics, Vol 7, 1485-1489, Copyright © 1998 by Oxford University Press
H Koutnikova, V Campuzano and M Koenig
Frataxin is a mitochondrial protein deficient in Friedreich ataxia (FRDA)
and which is associated with abnormal intramitochondrial iron handling. We
identified the mitochondrial processing peptidase beta (MPPbeta) as a
frataxin protein partner using the yeast two-hybrid assay. In in vitro
assays, MPPbeta binds frataxin which is cleaved by the reconstituted MPP
heterodimer. MPP cleavage of frataxin results in an intermediate form
(amino acids 41-210) that is processed further to the mature form. In vitro
and in vivo experiments suggest that two C- terminal missense mutations
found in FRDA patients modulate interaction with MPPbeta, resulting in a
slower maturation process at the normal cleavage site. The slower
processing rate of frataxin carrying such missense mutations may therefore
contribute to frataxin deficiency, in addition to an impairment of its
function.
ARTICLES
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase
Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC), CNRS, INSERM, Universite Louis Pasteur, 1 rue Laurent Fries, BP 163, 67404 Illkirch Cedex-Strasbourg, France.
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