NIEHS in-house researchers are the first to develop a 3D structure of the twinkle protein that can map how and where mutations contribute to mitochondrial diseases. Mitochondrial diseases are a group of inherited conditions that affect 1 in 5,000 people and have very few treatments. 

The researchers used cryo-electron microscopy (CryoEM), which allowed them to see inside the protein and the intricate structures of hundreds of amino acids or residues and how they interact. 

The new findings will be particularly relevant for developing targeted treatments for patients who suffer from mitochondrial diseases such as progressive external ophthalmoplegia, a condition that can lead to loss of muscle functions involved in eye and eyelid movement; Perrault syndrome, a rare genetic disorder that can cause hearing loss; infantile-onset spinocerebellar ataxia, a hereditary neurological disorder; and hepatocerebral mitochondrial DNA (mtDNA) depletion syndrome, a hereditary disease that can lead to liver failure and neurological complications during infancy.

Tags: basic research, mitochondrial diseases, cryoEM