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Human diseases associated with defects in assembly of OXPHOS complexes

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cam.issuedOnline2018-07-20
dc.contributor.authorZeviani, M
dc.date.accessioned2018-09-27T14:12:52Z
dc.date.available2018-09-27T14:12:52Z
dc.date.issued2018-07-20
dc.description.abstractThe structural biogenesis and functional proficiency of the multiheteromeric complexes forming the mitochondrial oxidative phosphorylation system require the concerted action of a number of chaperones and other assembly factors, most of which are specific for each complex. Mutations in a large number of these assembly factors are responsible for mitochondrial disorders, in most cases of infantile onset, typically characterized by biochemical defects of single specific complexes. In fact, pathogenic mutations in complex-specific assembly factors outnumber, in many cases, the repertoire of mutations found in structural subunits of specific complexes. The identification of patients with specific defects in assembly factors has provided an important contribution to the nosological characterization of mitochondrial disorders, and has also been a crucial means to identify a huge number of these proteins in humans, which play an essential role in mitochondrial bioenergetics. The wide use of next generation sequencing has led and will allow to identify additional components of the assembly machinery of individual complexes, mutations of which are responsible for human disorders. The functional studies on patients’ specimen, together with the creation and characterization of in vivo models, are fundamental to better understand the mechanisms of each of them. A new chapter in this field will be, in the near future, the discovery of mechanisms and actors underlying the formation of supercomplexes, molecular structures formed by the physical, and possibly functional, interaction of some of the individual respiratory complexes, particularly complex I, III and IV.
dc.identifier.doi10.17863/CAM.30207
dc.identifier.eissn1744-1358
dc.identifier.issn0071-1365
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/282843
dc.language.isoeng
dc.publisherPortland Press
dc.publisher.urlhttp://dx.doi.org/10.1042/ebc20170099
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectAssembly Factor
dc.subjectmiochondrial complexes
dc.subjectmitochondrial biogenesis
dc.subjectmitochondrial disorders
dc.subjectmitochondrial respiratory chain
dc.subjectoxidative phosphorylation
dc.subjectHumans
dc.subjectMitochondrial Diseases
dc.subjectMultienzyme Complexes
dc.subjectMutation
dc.subjectOxidative Phosphorylation
dc.titleHuman diseases associated with defects in assembly of OXPHOS complexes
dc.typeArticle
dcterms.dateAccepted2018-05-02
prism.endingPage286
prism.issueIdentifier3
prism.publicationNameEssays in Biochemistry
prism.startingPage271
prism.volume62
pubs.funder-project-idMRC (MC_UP_1002/1)
pubs.funder-project-idMedical Research Council (MC_UU_00015/8)
pubs.funder-project-idMRC (MC_UU_00015/8)
pubs.funder-project-idMedical Research Council (MC_UP_1002/1)
pubs.funder-project-idMedical Research Council (MC_UU_00015/7)
rioxxterms.licenseref.startdate2018-05-02
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
rioxxterms.typeJournal Article/Review
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1042/EBC20170099

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