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Human Genetics

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

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DAT1 and BDNF polymorphisms interact to predict Aβ and tau pathology.

Claire J Ciampa¹, Thomas M Morin², Alice Murphy³

¹Department of Biology, Brandeis University, Waltham, MA 02453, USA.

Neurobiology of Aging

|November 10, 2023

Summary

Genetic variations in dopamine transporter (DAT1) and brain-derived neurotrophic factor (BDNF) genes are linked to increased Alzheimer's disease (AD) pathology and brain atrophy in cognitively normal older adults.

Keywords:

ADNI Amyloid PET Brain derived neurotrophic factor gene Dopamine transporter gene Hippocampal atrophy Tau PET

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Area of Science:

Neurogenetics
Alzheimer's Disease Research
Cognitive Neuroscience

Background:

Dopamine transporter (DAT1/SLC6A3) and brain-derived neurotrophic factor (BDNF) gene polymorphisms have been linked to brain atrophy and memory decline.
The precise relationship between these genetic variations and Alzheimer's disease (AD) pathology, such as beta-amyloid (Aβ) and tau accumulation, remains unclear.

Purpose of the Study:

To investigate the effects of DAT1 and BDNF gene polymorphisms on AD pathology (Aβ and tau), hippocampal volume, and cognitive function.
To explore potential interactions between DAT1 and BDNF in predicting AD-related biomarkers and atrophy.

Main Methods:

Analysis of cross-sectional data from 321 cognitively normal older adults from the Alzheimer's Disease Neuroimaging Initiative (ADNI).
Assessment of Aβ and tau pathology using positron emission tomography (PET) imaging.
Measurement of hippocampal volume and cognitive performance.

Main Results:

A significant interaction between DAT1 and BDNF polymorphisms was observed in predicting Aβ-PET, tau-PET, and hippocampal atrophy.
Individuals carrying both the DAT1 C allele and the BDNF Met allele showed increased AD pathology and hippocampal atrophy.
These findings suggest a combined genetic risk for AD pathology.

Conclusions:

Novel links are established between dopamine and neurotrophic factor genes and the development of AD pathology.
The interaction between DAT1 and BDNF variants may contribute to an elevated risk for Alzheimer's disease.
These genetic factors could play a role in the early stages of AD pathogenesis.