Neurospora strains harboring mitochondrial disease-associated mutations in iron-sulfur subunits of complex I.

Abstract:

:We subjected the genes encoding the 19.3-, 21.3c-, and 51-kDa iron-sulfur subunits of respiratory chain complex I from Neurospora crassa to site-directed mutagenesis to mimic mutations in human complex I subunits associated with mitochondrial diseases. The V135M substitution was introduced into the 19.3-kDa cDNA, the P88L and R111H substitutions were separately introduced into the 21.3c-kDa cDNA, and the A353V and T435M alterations were separately introduced into the 51-kDa cDNA. The altered cDNAs were expressed in the corresponding null-mutants under the control of a heterologous promoter. With the exception of the A353V polypeptide, all mutated subunits were able to promote assembly of a functional complex I, rescuing the phenotypes of the respective null-mutants. Complex I from these strains displays spectroscopic and enzymatic properties similar to those observed in the wild-type strain. A decrease in total complex I amounts may be the major impact of the mutations, although expression levels of mutant genes from the heterologous promoter were sometimes lower and may also account for complex I levels. We discuss these findings in relation to the involvement of complex I deficiencies in mitochondrial disease.

journal_name

Genetics

journal_title

Genetics

authors

Duarte M,Schulte U,Ushakova AV,Videira A

doi

10.1534/genetics.105.041517

keywords:

subject

Has Abstract

pub_date

2005-09-01 00:00:00

pages

91-9

issue

1

eissn

0016-6731

issn

1943-2631

pii

genetics.105.041517

journal_volume

171

pub_type

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