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. 2024 Jul;61(7):4116-4128.
doi: 10.1007/s12035-023-03820-y. Epub 2023 Dec 8.

Association of Biochemical Parameters and Screening for Mutations in the MCU Gene in Alzheimer's Disease Patients

Anila Venugopal  1 , Mahalaxmi Iyer  2   3 , Arul Narayanasamy  4 , T Ravimanickam  5 , Abilash Valsala Gopalakrishnan  6 , Mukesh Kumar Yadav  3 , Nachimuthu Senthil Kumar  7 , Balachandar Vellingiri  8   9
Affiliations

Association of Biochemical Parameters and Screening for Mutations in the MCU Gene in Alzheimer's Disease Patients

Anila Venugopal et al. Mol Neurobiol. 2024 Jul.

Erratum in

Abstract

The most prevalent form of dementia, Alzheimer's disease (AD) is a chronic illness that is on the rise among the geriatric population. Even though research into its biochemical, genetic, and cytogenetic pathways has advanced, its aetiology is still unclear and complex. In this study, we recruited sixty-eight participants diagnosed with AD where the cytogenetic, biochemical parameters and genetic mutations were analysed. Our results revealed chromosomal aberrations such as aneuploidies in the peripheral blood of Alzheimer's disease patients. Biochemical parameters revealed no statistical significance in the study though a pattern could be observed in the serum levels. Further few novel mutations at the c.21 C > T, c.56G > A were observed in the MCU gene of mitochondrial calcium uniporter. All these findings reveal the need for a larger cohort study to gain a better and more detailed understanding of the aetiology of Alzheimer's disease.

Keywords: MCU; Alzheimer’s Disease; Biochemical Parameters; Cytogenetics; Hormones; Mitochondrial Calcium Uniporter.

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