التفاصيل البيبلوغرافية
| العنوان: |
Analysis of the prion protein gene in multiple system atrophy |
| المؤلفون: |
Chelban, Viorica, Manole, Andreea, Pihlstrøm, Lasse, Schottlaender, Lucia, Efthymiou, Stephanie, OConnor, Emer, Meissner, Wassilios G., Holton, Janice L., Houlden, Henry |
| المصدر: |
Neurobiology of Aging. :216.e15-216.e18 |
| بيانات النشر: |
The Authors. Published by Elsevier Inc. |
| مصطلحات موضوعية: |
Ageing, Prion protein, Neuroscience(all), animal diseases, mental disorders, Clinical Neurology, Prion disease, Multiple system atrophy, PRNP, Sporadic Creutzfeld-Jakob disease, Geriatrics and Gerontology, Developmental Biology, nervous system diseases |
| الوصف: |
Neurodegenerative diseases are a very diverse group of disorders but they share some common mechanisms such as abnormally misfolded proteins with prion-like propagation and aggregation. Creutzfeldt-Jakob disease (CJD) is the most prevalent prion disease in humans. In the sporadic form of CJD the only known risk factor is the codon 129 polymorphism. Recent reports suggested that α-synuclein in multiple system atrophy (MSA) has similar pathogenic mechanisms as the prion protein. Here we present 1 Italian family with MSA and prion disease. Also, cases of concurrent MSA and prion pathology in the same individual or family suggest the possibility of molecular interaction between prion protein and α-synuclein in the process of protein accumulation and neurodegeneration, warranting further investigations. We assessed the PRNP gene by whole-exome sequencing in 264 pathologically confirmed MSA cases and 462 healthy controls to determine whether the 2 diseases share similar risk factors. We then analyzed codon 129 polymorphism by Sanger sequencing and compared with previously published results in sporadic CJD. Homozygosity at codon 129 was present in 50% of pathologically confirmed MSA cases and in 58% of normal controls (odds ratio, 0.7 (95% confidence interval of 0.5–0.9)) compared with 88.2% in sporadic CJD. Our data show that the homozygous state of position 129 in the PRNP is not a risk factor for MSA. No other variants in the PRNP gene were associated with increased risk for MSA. |
| اللغة: |
English |
| تدمد: |
0197-4580 |
| DOI: |
10.1016/j.neurobiolaging.2016.09.021 |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0b8a15280bf38d331a1e549a176aa28e |
| Rights: |
OPEN |
| رقم الانضمام: |
edsair.dedup.wf.001..0b8a15280bf38d331a1e549a176aa28e |
| قاعدة البيانات: |
OpenAIRE |