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Curr Genet Med Rep. 2018;6(1):1-10. doi: 10.1007/s40142-018-0132-2. Epub 2018 Mar 1.

Mitochondria and Alzheimer's Disease: the Role of Mitochondrial Genetic Variation.

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Department of Biology, Brigham Young University, 4102 LSB, Provo, UT 84602 USA.


Purpose of Review:

Alzheimer's disease (AD) is the most common form of dementia, affects an increasing number of people worldwide, has a rapidly increasing incidence, and is fatal. In the past several years, significant progress has been made towards solving the genetic architecture of AD, but our understanding remains incomplete and has not led to treatments that either cure or slow disease. There is substantial evidence that mitochondria are involved in AD: mitochondrial functional declines in AD, mitochondrial encoded gene expression changes, mitochondria are morphologically different, and mitochondrial fusion/fission are modified. While a majority of mitochondrial proteins are nuclear encoded and could lead to malfunction in mitochondria, the mitochondrial genome encodes numerous proteins important for the electron transport chain, which if damaged could possibly lead to mitochondrial changes observed in AD. Here, we review publications that describe a relationship between the mitochondrial genome and AD and make suggestions for analysis approaches and data acquisition, from existing datasets, to study the mitochondrial genetics of AD.

Recent Findings:

Numerous mitochondrial haplogroups and SNPs have been reported to influence risk for AD, but the majority of these have not been replicated, nor experimentally validated.


The role of the mitochondrial genome in AD remains elusive, and several impediments exist to fully understand the relationship between the mitochondrial genome and AD. Yet, by leveraging existing datasets and implementing appropriate analysis approaches, determining the role of mitochondrial genetics in risk for AD is possible.


Alzheimer’s disease; Mitochondrial cascade hypothesis; Mitochondrial genetics

Conflict of interest statement

Compliance with Ethical StandardsThe authors declare that they have no conflict of interest.This article does not contain any studies with human or animal subjects performed by any of the authors.

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