What we’re studying: We’re looking at why some people get genetic diseases that affect their nerves and muscles. We’re focusing on tiny parts of cells called mitochondria.

What are mitochondria? Mitochondria work like small batteries that give your body energy. Every cell in your body has them, and they have their own DNA (genetic instructions) called mitochondrial DNA.

The problem: Sometimes there are mistakes in mitochondrial DNA. In most cells, these mistakes get cleared out naturally because cells replace themselves regularly. But muscle cells are different – they don’t replace themselves. This means mistakes in their mitochondrial DNA can pile up over time.

These DNA mistakes show up in some people’s muscles as they get older. They also appear in certain genetic muscle diseases.

What we want to find out: We think the patterns of these DNA mistakes are different depending on whether they’re caused by aging or by a specific disease. We want to figure out these patterns so we can:

• Tell the difference between normal aging and actual disease
• Diagnose these conditions faster and more accurately

Why this matters: When people get an accurate diagnosis, they can get better medical care, learn about their genetic risks, understand their options for having children, and join clinical trials for new treatments.