Anu Suomalainen

NAD+ precursor treatment prevents cardiomyopathy but disrupts erythroid maturation in mitochondrial progeria

Summary Nicotinamide adenine dinucleotide (NAD + ) plays a central role in energy metabolism, and its decline is linked to various degenerative diseases. While NAD + restoration holds therapeutic promise, its long term, tissue-specific consequences remain poorly understood. We in...

Expanding the cardiac phenotype of homozygous PPA2 variants: insights from a large Finnish family

Abstract Background Cardiomyopathies in children associate with significant morbidity and mortality. PPA2 deficiency is a rare mitochondrial disorder linked to sudden cardiac death in children and adolescents. Most reported cases are post-mortem, with limited data on surviving in...