# Core H: Mitochondrial Genomics and Metabolism Core

> **NIH NIH P30** · UNIVERSITY OF KANSAS MEDICAL CENTER · 2020 · $555,564

## Abstract

ABSTRACT: MITOCHONDRIAL GENOMICS AND METABOLISM (MGM) CORE 
 During the previous funding cycle the Mitochondrial Genomics and Metabolism (MGM) Core assisted 
investigators interested in the genetics and function of mitochondria in Alzheimer's disease and aging. Our 
mission was to provide investigators with tools to conduct genomic, transcriptomic, proteomic, and 
metabolomic analyses of mitochondria, and to relate such measures to mitochondrial bioenergetics in aging 
and AD. Our goals were to provide cybrid cell lines to investigators exploring the hypothesis that AD is a 
systemic disease that affects metabolism in mitochondria derived from platelets, to genotype APOE and 
TOMM40 for all ADC Clinical Cohort subjects, to perform mtDNA haplotype analyses and sequence mtDNA 
from Clinical Cohort subjects, and to advise and assist scientists studying mitochondrial genomics or 
metabolism in AD and aging. An additional goal was to generate unique datasets and provide those datasets 
to KU ADC and outside investigators. The MGM Core accomplished each of these goals. 
 During the next period the MGM Core will provide state of the art tools to investigators that will allow them to 
study mitochondrial genetics and metabolism and develop possible biomarkers for AD. We will facilitate or 
provide: (1) New cybrid lines derived from platelet mitochondria from 15 amyloid positive and 15 amyloid 
negative cognitively normal (CN) individuals (CDR=0) that are also studied by the Clinical and Neuroimaging 
Cores, and new cybrid lines with modified APOE genotypes. These cybrids will help investigators explore 
differences between amyloid positive and amyloid negative CN adults, and explore the relationship between 
APOE isoforms and mitochondrial function. (2) Information on mtDNA mutations associated with AD by 
performing next generation sequencing (NGS) on the complete Clinical Cohort. We will document the validity 
of mutations through duplex mtDNA sequencing, and compare brain and blood mtDNA NGS to generate data 
that enables correlations of disease diagnoses or endophenotypic characteristics with mtDNA mutations or 
heteroplasmy. (3) Development of potential AD biomarkers by characterizing epigenomic modifications of 
DNA bases in AD, MCI, and CN, and information on post-translational modifications of mitochondrial proteins 
in AD, MCI, and CN subjects from the Clinical Cohort group. (4) Assistance in methodology development for 
the study of mitochondrial genomics and metabolism in AD and aging, and arrange seminars or workshops 
focused on mitochondrial genetics, metabolism, and neurodegeneration. 
 Through its efforts the MGM Core will assist ADC and other investigators in making new discoveries. Our 
involvement in pioneering studies such as the deep sequencing of mtDNA, those planned in DNA 
epigenomics, and the quantification and characterization of post-translational modifications of mitochondrial 
proteins will lead to new AD-relevant discoveries...

## Key facts

- **NIH application ID:** 9978600
- **Project number:** 5P30AG035982-10
- **Recipient organization:** UNIVERSITY OF KANSAS MEDICAL CENTER
- **Principal Investigator:** ELIAS K MICHAELIS
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $555,564
- **Award type:** 5
- **Project period:** — → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9978600

## Citation

> US National Institutes of Health, RePORTER application 9978600, Core H: Mitochondrial Genomics and Metabolism Core (5P30AG035982-10). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9978600. Licensed CC0.

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