The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation

Pronicka, Ewa; Piekutowska‐Abramczuk, Dorota; Szymañska-Dêbiñska, Tamara; Bielecka, Liliana; Kowalski, Paweł; Łuczak, Sylwia; Karkucińska-Więckowska, Agnieszka; Migdał, Marek; Kubalska, Jolanta; Zimowski, Janusz; Jamroz, Ewa; Wierzba, Jolanta; Sykut-Cegielska, Jolanta; Pronicki, Maciej; Zaremba, Jacek; Krajewska‐Walasek, M

doi:10.1016/j.mito.2013.05.007

Cited by 19 publications

(16 citation statements)

References 32 publications

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“…The E140K variant is quite rare worldwide, as it was not reported in the 1000 Genomes Database and had a prevalence of only 3/8597 (0.035%) among European alleles in the NHLBI Exome Sequencing Project (ESP). The high prevalence of E140K carriers in Poland is in agreement with a frequent occurrence of SCO2 deficiency in Slavic regions and with an uneven distribution of homozygous patients who, in the majority, were born in Central-Eastern Europe (B€ ohm et al 2006;Papadopoulou et al 1999;Pronicka et al 2013). Since >20 million Poles live abroad, the high prevalence of E140K indicates that patients and controls used in SCO2 population studies should be matched carefully, not only for broad ethnicity but also specifically for Polish (Central European) admixture.…”

Section: Discussionmentioning

confidence: 54%

“…Sequencing of the SCO2 gene in all of these subjects showed five homozygotes (Pronicka et al 2013), whereas in the six remaining cases no pathogenic variant was found on the other allele. Thus, the apparent prevalence of random carriers was 6:621 (1:103, 0.96%, CI: 0.44-2.09).…”

Section: Screening Of the Symptomatic And Population Cohortsmentioning

confidence: 88%

“…Using our database of 34 SCO2-deficient families (Pronicka et al 2013), the confirmed/obligate carriers were polled for their results of recent ophthalmic examinations. Thirty-five subjects responded, representing six different pathogenic SCO2 variants.…”

Section: Ophthalmic Examination Of Patientsmentioning

confidence: 99%

“…The typical form of the disease is associated with compound heterozygosity, with at least one allele expressing the common c.418G>A (p.E140K) variant (Pronicka et al 2013).…”

Section: Introductionmentioning

confidence: 99%

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No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

Piekutowska‐Abramczuk

Kocyła-Karczmarewicz

Małkowska

et al. 2015

JIMD Reports

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SCO2 mutations cause recessively inherited cytochrome c oxidase deficiency. Recently Tran-Viet et al. proposed that heterozygosity for pathogenic SCO2 variants, including the common E140K variant, causes high-grade myopia. To investigate the association of SCO2 mutations with myopia, ophthalmic examinations were performed on 35 E140K carriers, one homozygous infant, and on a mouse model of Sco2 deficiency. Additionally, a screen for other putative effects of SCO2 heterozygosity was carried out by comparing the prevalence of the common E140K variant in a population of patients with undiagnosed diseases compatible with SCO2-related pathogenesis to that in a general population sample. High-grade myopia was not identified in any of the studied individuals. Of the carriers, 17 were emmetropic, and 18 possessed refractive errors. Additionally, no significant axial elongation indicative of high-grade myopia was found in mice carrying E129K (corresponding to E140K in humans) knock-in mutations. The prevalence of E140K carriers in the symptomatic cohort was evaluated as 1:103 (CI: 0.44-2.09) and did not differ significantly from the population prevalence (1:147, CI: 0.45-1.04).Our study demonstrates that heterozygosity for pathogenic SCO2 variants is not associated with high-grade myopia in either human patients or in mice.

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Section: Discussionmentioning

confidence: 54%

Section: Screening Of the Symptomatic And Population Cohortsmentioning

confidence: 88%

Section: Ophthalmic Examination Of Patientsmentioning

confidence: 99%

“…The typical form of the disease is associated with compound heterozygosity, with at least one allele expressing the common c.418G>A (p.E140K) variant (Pronicka et al 2013).…”

Section: Introductionmentioning

confidence: 99%

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No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

Piekutowska‐Abramczuk

Kocyła-Karczmarewicz

Małkowska

et al. 2015

JIMD Reports

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“…Classical phenotype of SCO2 deficiency includes neonatal mitochondrial encephalocardiomyopathy and is characteristic for compound heterozygotes of SCO2 gene mutations 1. The later onset of mitochondrial encephalomyopathy with expiratory stridor and respiratory failure is observed in g.1541G>A homozygotes 2 3…”

mentioning

confidence: 99%

Leigh disease due toSCO2mutations revealed at extended autopsy

Szymañska-Dêbiñska

Karkucińska-Więckowska

Piekutowska‐Abramczuk

et al. 2015

J Clin Pathol

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Mitochondrial disorders of the OXPHOS system

2020

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Mitochondrial disorders are amongst the most frequent inborn errors of metabolism, their primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS). OXPHOS is composed of the electron transport chain (ETC), formed by four multimeric enzymes and two mobile electron carriers, plus an ATP synthase (also called complex V). The ETC performs the redox reactions involved in cellular respiration while generating the proton motive force used by complex V to synthesize ATP. OXPHOS biogenesis involves multiple steps, starting from the expression of genes encoded in physically separated genomes, namely the mitochondrial and nuclear DNA, to the coordinated assembly of components and cofactors building each individual complex and eventually the supercomplexes. The genetic cause underlying around half of the diagnosed mitochondrial disease cases is currently known. Many of these cases result from pathogenic variants in genes encoding structural subunits or additional factors directly involved in the assembly of the ETC complexes. Here we review the historical and most recent findings concerning the clinical phenotypes and the molecular pathological mechanisms underlying this particular group of disorders.

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The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation

Cited by 19 publications

References 32 publications

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

Leigh disease due toSCO2mutations revealed at extended autopsy

Mitochondrial disorders of the OXPHOS system

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