Screening forCHCHD10mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant: Table 1
| العنوان: | Screening forCHCHD10mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant: Table 1 |
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| المؤلفون: | Albert C. Ludolph, Kathrin Muller, Guntram Borck, Angela Rosenbohm, Jochen H. Weishaupt, T. M. Strom, Annemarie Hübers, Thomas Meitinger, Wolfgang Ruf, Sebastian Stranz, Nicolai Marroquin, Thomas Wieland, Sarah J Brockmann, Karin M Danzer, Patrick Weydt |
| المصدر: | Brain. 139:e8-e8 |
| بيانات النشر: | Oxford University Press (OUP), 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | 0301 basic medicine, Genetics, Mitochondrial DNA, Mutation, Cerebellar ataxia, Respiratory chain, Biology, medicine.disease, medicine.disease_cause, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Neurology (clinical), medicine.symptom, Amyotrophic lateral sclerosis, Myopathy, 030217 neurology & neurosurgery, Frontotemporal dementia, Genetic association |
| الوصف: | Sir, Bannwarth et al. (2014) reported a mutation in CHCHD10 responsible for a variable phenotype including cerebellar ataxia, hearing impairment, myopathy, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This gene encodes the coiled-coil helix coiled-coil helix domain-containing protein 10 of largely unknown function. It is a strictly mitochondrially located protein that may be involved in respiratory chain function or mitochondrial genome stability (Bannwarth et al. , 2014). Several subsequent publications provided further evidence that CHCHD10 mutations can cause familial motor neuron disease/ALS (familial ALS), with an unusually slow disease progression in most patients (Bannwarth et al. , 2014; Johnson et al. , 2014; Muller et al. , 2014; Kurzwelly et al. , 2015; Penttila et al. , 2015). As an important argument for CHCHD10 causing ALS, co-segregation with disease could be demonstrated for the three CHCHD10 variants p.R15L (Johnson et al. , 2014; Muller et al. , 2014; Kurzwelly et al. , 2015), p.S59L (Bannwarth et al. , 2014) and p.G66V (Penttila et al. , 2015). The strongest genetic evidence for causality exists with regard to the p.G66V mutation, which was first detected by Muller et al. (2014) in a single patient with familial ALS and subsequently shown to co-segregate with a slowly progressing motor neuron disease in a total of 17 pedigrees (Penttila et al. , 2015). Hence there is meanwhile unequivocal evidence that CHCHD10 mutation can cause familial motor neuron degeneration. No association of CHCHD10 variants with ALS could be shown in genome-wide association studies, which can plausibly be explained by the low frequency of CHCHD10 mutations in familial ALS patient cohorts (Bannwarth et al. , 2014; Johnson et al. , 2014; Muller et al. , 2014). Consequently, due to the … |
| تدمد: | 1460-2156 0006-8950 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::19d9d00debf9a5958719032480259effTest https://doi.org/10.1093/brain/awv218Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi...........19d9d00debf9a5958719032480259eff |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14602156 00068950 |
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