Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

Poyau, Alain; Buchet, K.; Bouzidi, Mohamed Fouad; Zabot, M. T.; Échenne, B.; Yao, Jianbo; Shoubridge, Eric A.; Godinot, Catherine

doi:10.1007/s004399900230

Cited by 11 publications

(25 citation statements)

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“…The other reported cases (16,17,20) demonstrated a very similar late onset and mild LS phenotype, which appears to be characteristic of patients carrying at least one SURF1 missense mutation. The patients reported by Pequignot et al (16) and Poyau et al (17) were still alive at 14 and 7 years, respectively.Van Riesen et al (20) briefly described a boy aged 13 years with his psychomotor skills well preserved for a long time, who was able to attend a regular elementary school for 1 year.…”

Section: Discussionmentioning

confidence: 58%

“…Remarkably, most of the mutations reported to date create premature termination codons (frameshift or nonsense changes) that induce the degeneration of SURF1 messenger RNAs (mRNAs) by nonsense-mediated decay (27) and prevent normal SURF1 protein synthesis (28). Missense mutations appear to be very rare, as only a few have been described in approximately 90 COX-deficient Leigh patients (2,(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24). Most study groups agree that early onset and death before adolescence are among the 4).…”

Section: Discussionmentioning

confidence: 99%

“…Additionally, 11 LS patients, carriers of SURF1 missense mutations, reported in the literature were included in the analysis of natural history and clinical phenotype (15)(16)(17)(18)(19)(20)(21)(22)(23)(24).…”

Section: Patientsmentioning

confidence: 99%

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SURF1 missense mutations promote a mild Leigh phenotype

Piekutowska‐Abramczuk

Magner

Popowska

et al. 2009

Clinical Genetics

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Section: Discussionmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 99%

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SURF1 missense mutations promote a mild Leigh phenotype

Piekutowska‐Abramczuk

Magner

Popowska

et al. 2009

Clinical Genetics

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“…Mutations in conserved residues of Cox10, Cox15 and SURF1 manifest in tubulopathy and leukodystrophy [158], sensorineural deafness [159], fatal infantile hypertrophic cardiomyopathy [159][160][161], Charcot-Marie-Tooth disease type 1A [162] and neurologic LS [153,159,[163][164][165][166][167][168][169][170]. Of note, pathologic mutations in SURF1 account for the majority of cases of LS associated with CcO deficiency [171].…”

Section: Heme C and Heme A Pathway-related Diseasesmentioning

confidence: 99%

From Synthesis to Utilization: The Ins and Outs of Mitochondrial Heme

Swenson

Moore

Marcero

et al. 2020

Cells

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Heme is a ubiquitous and essential iron containing metallo-organic cofactor required for virtually all aerobic life. Heme synthesis is initiated and completed in mitochondria, followed by certain covalent modifications and/or its delivery to apo-hemoproteins residing throughout the cell. While the biochemical aspects of heme biosynthetic reactions are well understood, the trafficking of newly synthesized heme—a highly reactive and inherently toxic compound—and its subsequent delivery to target proteins remain far from clear. In this review, we summarize current knowledge about heme biosynthesis and trafficking within and outside of the mitochondria.

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“…A complex insertion/ deletion mutation in exon 4 (326 InsAT/DelTCTGCCAGCC) is a common allele in several populations and likely represents an ancient mutation. Missense alleles are rare, and thus far have only been reported in combination with either splice site, frameshift, or nonsense alleles [Teraoka et al, 1999; Poyau et al, 2000]. Immunoblot analyses of mitochondria isolated from fibroblasts of SURF1 patients show no detectable Surf1 protein, even in patients with missense mutations [Tiranti et al, 1999; Yao and Shoubridge, 1999; von Kleist‐Retzow et al, 2001], suggesting that this will be a reliable screening technique for patients harboring SURF1 gene defects.…”

Section: Surf1 Mutations In Classical Leigh Syndromementioning

confidence: 99%

Cytochrome c oxidase deficiency

2001

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Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain, catalyzing the transfer of electrons from reduced cytochrome c to molecular oxygen. It is composed of 13 structural subunits, three of which are encoded in mtDNA and form the catalytic core of the enzyme. In addition to these structural subunits, a large number of accessory factors are necessary for the assembly and maintenance of the active holoenzyme complex. Most isolated COX deficiencies are inherited as autosomal recessive disorders; mutations in the mtDNA-encoded COX subunit genes are relatively rare. These mutations are associated with a wide spectrum of clinical phenotypes ranging from isolated myopathy to multisystem disease, with onset from late childhood to adulthood. Autosomal recessive COX deficiencies generally have a very early age of onset and a fatal outcome. Several clinical presentations have been described including Leigh Syndrome, hypertrophic cardiomyopathy and myopathy, and fatal infantile lactic acidosis. Surprisingly, mutations in the nuclear-encoded structural COX subunits have not been found in association with any of these phenotypes. Mutations have, however, been identified in several COX assembly factors: SURF1 (Leigh Syndrome), SCO2 (hypertrophic cardiomyopathy), SCO1 (hepatic failure, ketoacidotic coma), and COX10 (encephalopathy, tubulopathy). As all of these assembly factors are ubiquitously expressed, the molecular basis for the different clinical presentations remains unexplained. Although the genetic defects in the majority of patients with COX deficiency are unknown, it is likely that most will be solved in the near future using functional complementation techniques.

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Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

Cited by 11 publications

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SURF1 missense mutations promote a mild Leigh phenotype

SURF1 missense mutations promote a mild Leigh phenotype

From Synthesis to Utilization: The Ins and Outs of Mitochondrial Heme

Cytochrome c oxidase deficiency

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