Academic Journal
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance
| العنوان: | A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance |
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| المؤلفون: | CAROSSA, VALERIA, Ghelli A, Tropeano CV, Valentino ML, Iommarini L, Maresca A, Caporali L, Morgia CL, Liguori R, Barboni P, Carbonelli M, Rizzo G, Tonon C, Lodi R, Martinuzzi A, Nardo VD, Rugolo M, FERRETTI, LUCA, GANDINI, FRANCESCA, PALA, MARIA, ACHILLI, ALESSANDRO, OLIVIERI, ANNA, TORRONI, ANTONIO, Carelli V. |
| المساهمون: | Carossa, Valeria, Ghelli, A, Tropeano, Cv, Valentino, Ml, Iommarini, L, Maresca, A, Caporali, L, Morgia, Cl, Liguori, R, Barboni, P, Carbonelli, M, Rizzo, G, Tonon, C, Lodi, R, Martinuzzi, A, Nardo, Vd, Rugolo, M, Ferretti, Luca, Gandini, Francesca, Pala, Maria, Achilli, Alessandro, Olivieri, Anna, Torroni, Antonio, Carelli, V. |
| سنة النشر: | 2014 |
| المجموعة: | IRIS UNIPV (Università degli studi di Pavia) |
| مصطلحات موضوعية: | human mtDNA, cyt b mutation, exercise intolerance, multisystem mitochondrial disease, cybrids |
| الوصف: | A novel heteroplasmic mitochondrial DNA (mtDNA) micro-deletion affecting the cytochrome b gene (MT-CYB) was identified in an Italian female patient with a multisystem disease characterized by sensorineural deafness, cataracts, retinal pigmentary dystrophy, dysphagia, postural and gait instability and myopathy with prominent exercise intolerance. The deletion is 18-base pair long and encompasses nucleotide positions 15649-15666, causing the loss of six amino acids (Ile-Leu-Ala-Met-Ile-Pro) in the protein, but leaving the remaining of the MT-CYB sequence in frame. The defective complex III function was co-transferred with mutant mtDNA in cybrids, thus unequivocally establishing its pathogenic role. Maternal relatives failed to show detectable levels of the deletion in blood and urinary epithelium, suggesting a de-novo mutational event. This is the second report of an in-frame intragenic deletion in MT-CYB, which most likely occurred in early stages of embryonic development, associated with a severe multisystem disorder with prominent exercise intolerance. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/24863938; info:eu-repo/semantics/altIdentifier/wos/WOS:000339431600008; volume:35; issue:8; firstpage:954; lastpage:958; numberofpages:5; journal:HUMAN MUTATION; https://hdl.handle.net/11571/783631; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84904408815 |
| DOI: | 10.1002/humu.22596 |
| DOI: | 10.1002/humu.22596/abstract |
| الاتاحة: | https://hdl.handle.net/11571/783631 https://doi.org/10.1002/humu.22596 http://onlinelibrary.wiley.com/doi/10.1002/humu.22596/abstract |
| رقم الانضمام: | edsbas.16CF48B5 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/humu.22596 |
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