Mutational Analysis in Mitochondrial Calcium Uniporter Gene from Patients with Alzheimer's disease

Anila Venugopal,Ajay Elangovan,Harysh Winster Suresh Babu, Sri S. Sabari, Sanjana Murali, Bupesh Giridharan, Nihala Sidhic, Ankur Das Talukdar, Arul Narayanaswamy,Balachandar Vellingiri

INTERNATIONAL JOURNAL OF HUMAN GENETICS(2023)

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摘要
Due to population growth total number of people getting affected with Alzheimer's disease (AD) has dramatically increased. Unfortunately, there is no comprehensive analysis of diagnosis, progression, or treatment for AD in India. The chief study objective was to examine the risk factors associated with demographic and clinical features that could contribute to AD in India. A retrospective study was conducted with 174 AD patients with a structured questionnaire. It was observed by the researchers highly educated people from urban area are majorly diagnosed with AD. Cardiovascular diseases were found to be significant among the AD affected individuals. De novo point mutations were also identified among the participants. These findings indicate a necessity for proper diagnosis of AD and its follow-up care. It is essential to identify the demographic profile of AD in India to better the living conditions and ensure their proper treatment.
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关键词
Alzheimer's Disease,Comorbidities,Mitochondrial Calcium Uniporter,MICU1,Neurodegenerative,Socioeconomic
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