Michio Hirano

A Scalable Framework for Harmonized mtDNA Analysis Across Diverse Biobanks

The paper develops a scalable framework to generate harmonized mtDNA datasets from existing sequencing data across biobanks, enabling population-scale mitochondrial genomics without new sequencing.

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

Mitochondrial Energy Transformation Capacity Influences Brain Activation During Sensory, Affective, and Cognitive Tasks

The paper investigates how mitochondrial energy capacity affects brain function during cognitive, sensory, and affective tasks, finding that working memory is more vulnerable to energetic stress than sensory or affective processes.

4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity

This paper identifies 4,5-dihydroxyhexanoic acid as a biomarker for mitochondrial disease severity and links it to GABA metabolism.

Immune cell mitochondrial phenotypes are largely preserved in mitochondrial diseases and do not reflect disease severity

The paper profiles mitochondrial phenotypes in immune cells of mitochondrial disease patients and finds they are largely preserved and not strongly linked to disease severity.

Somatic nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts

The paper quantifies somatic mitochondrial DNA insertions (Numts) in human brain and fibroblasts, showing their accumulation over time and association with lifespan.

The energetic stress cytokine GDF15 is elevated in the context of chronic and acute psychosocial stress

This paper shows that GDF15 levels rise with psychosocial stress, depression, anxiety, and biological aging, and that saliva GDF15 has a distinct diurnal pattern and responds rapidly to acute stress.

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.

Synergistic effect of deoxynucleosides and AAV gene therapy for thymidine kinase 2 deficiency

This study shows that combining AAV gene therapy with deoxynucleoside supplementation improves survival and mitochondrial function in Tk2-deficient mice.