# Novel biological insights by utilizing mitochondrial genome information from HuBMAP resources

> **NIH NIH U01** · CHILDREN'S HOSP OF PHILADELPHIA · 2022 · $528,000

## Abstract

PROJECT SUMMARY
Although typical scRNA-seq or scATAC-seq data contain 5-25% of reads that map to the mitochondrial DNA
(mtDNA) genome, such mtDNA mapped reads are often filtered out or ignored during downstream analysis. The
mitochondria generate over 90% of the cellular energy and are central to health and disease. mtDNA mutations
directly cause mitochondrial disease. In addition, random somatic mtDNA mutations accumulate with age and
are associated with a broad range of aging-related diseases such as immune disorders, cardiovascular disease
and neurodegeneration. However, little is understood about whether accumulation of specific mtDNA variants
during aging occurs at the same rate across different cell types, organs, age, gender and race. Such insights
would substantially improve our understanding of how mtDNA mutations contribute to various human diseases.
Accordingly, significant gaps of knowledge in the single-cell biology field include the lack of robust mtDNA
analysis tools and how to utilize the rich mtDNA information often neglected in the ever-increasing datasets to
obtain new biological insights. We propose to address these knowledge gaps by: (1) develop robust mtDNA
analysis workflows and tools integrated with the HuBMAP Portal; (2) systemically analyze mtDNA from single-
cell datasets generated by HuBMAP and other resources; (3) determine whether and how prevalent human
mtDNA variants impact mitochondrial and cellular function.

## Key facts

- **NIH application ID:** 10530847
- **Project number:** 1U01HL166058-01
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Liming Pei
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $528,000
- **Award type:** 1
- **Project period:** 2022-07-01 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10530847

## Citation

> US National Institutes of Health, RePORTER application 10530847, Novel biological insights by utilizing mitochondrial genome information from HuBMAP resources (1U01HL166058-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10530847. Licensed CC0.

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