Frontiers in genetics · 2020
Parkinson's Disease in Teneurin Transmembrane Protein 4 (TENM4) Mutation Carriers.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Pu Jia-Li, Gao Ting, Si Xiao-Li, Zheng Ran, Jin Chong-Yao, Ruan Yang, Fang Yi, Chen Ying, Song Zhe, Yin Xin-Zhen, Yan Ya-Ping, Tian Jun, Zhang Bao-Rong
Аннотация
INTRODUCTION: Mutations in the teneurin transmembrane protein 4 (TENM4) gene, known to be involved in neuropsychiatric disorders, have been identified in three pedigree of essential tremor (ET) from Spain. ET has overlapping clinical manifestations and epidemiological symptoms with Parkinson's disease (PD), suggesting these two disorders may reflect common genetic risk factors. In this study, we investigated clinical and genetic manifestations in four unrelated pedigrees with both ET and PD in which TENM4 variants were identified.
METHODS: We subsequently explored whether TENM4 variants contributed to the risk of developing PD. The frequency of TENM4 variants was evaluated from four PD pedigrees and other 407 subjects.
RESULTS: The results revealed 12 different novel heterozygous variants, all at low frequency. A clear general enrichment of TENM4 variants was detected in early onset PD patients (p < 0.001, OR = 5.264, 95% CI = 1.957-14.158).
CONCLUSION: The results indicate that rare TENM4 variants may be associated with an increased risk of PD.
METHODS: We subsequently explored whether TENM4 variants contributed to the risk of developing PD. The frequency of TENM4 variants was evaluated from four PD pedigrees and other 407 subjects.
RESULTS: The results revealed 12 different novel heterozygous variants, all at low frequency. A clear general enrichment of TENM4 variants was detected in early onset PD patients (p < 0.001, OR = 5.264, 95% CI = 1.957-14.158).
CONCLUSION: The results indicate that rare TENM4 variants may be associated with an increased risk of PD.