دورية أكاديمية
A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity
| العنوان: | A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity |
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| المؤلفون: | F. Invernizzi, M. Tigano, C. Dallabona, C. Donnini, I. Ferrero, M. Cremonte, C. Lamperti, M. Zeviani, D. Ghezzi |
| المساهمون: | F. Invernizzi, M. Tigano, C. Dallabona, C. Donnini, I. Ferrero, M. Cremonte, D. Ghezzi, C. Lamperti, M. Zeviani |
| بيانات النشر: | Wiley |
| سنة النشر: | 2013 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | complex iii deficiency, encephalopathy, lactic acidosi, lyrm7, mzm1, yeast model, acidosis, lactic, amino acid sequence, brain, DNA mutational analysi, electron transport complex III, enzyme activation, female, human, infant, magnetic resonance imaging, mitochondrial encephalomyopathie, mitochondrial protein, molecular chaperone, molecular sequence data, pedigree, saccharomyces cerevisiae, sequence alignment, homozygote, mutation, genetic, genetics (clinical), Settore MED/03 - Genetica Medica |
| الوصف: | Mutations in nuclear genes associated with defective complex III (cIII) of the mitochondrial respiratory chain are rare, having been found in only two cIII assembly factors and, as private changes in single families, three cIII structural subunits. Recently, human LYRM7/MZM1L, the ortholog of yeast MZM1, has been identified as a new assembly factor for cIII. In a baby patient with early onset, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle, we identified a disease-segregating homozygous mutation (c.73G>A) in LYRM7/MZM1L, predicting a drastic change in a highly conserved amino-acid residue (p.Asp25Asn). In a mzm1 yeast strain, the expression of a mzm1(D25N) mutant allele caused temperature-sensitive respiratory growth defect, decreased oxygen consumption, impaired maturation/stabilization of the Rieske Fe-S protein, and reduced complex III activity and amount. LYRM7/MZM1L is a novel disease gene, causing cIII-defective, early onset, severe mitochondrial encephalopathy. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/24014394; info:eu-repo/semantics/altIdentifier/wos/WOS:000326864200006; volume:34; issue:12; firstpage:1619; lastpage:1622; numberofpages:4; journal:HUMAN MUTATION; http://hdl.handle.net/2434/523780Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84887613215 |
| DOI: | 10.1002/humu.22441 |
| الإتاحة: | https://doi.org/10.1002/humu.22441Test http://hdl.handle.net/2434/523780Test |
| رقم الانضمام: | edsbas.E09C54CC |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/humu.22441 |
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