3D Structure of Twinkle Protein | National Institute of Environmental Health Sciences Skip Navigation Research Highlights Add Details ‹‹ Back to List 2022 3D Structure of Twinkle Protein 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 cryoEM mitochondrial diseases Citation: Riccio AA, Bouvette J, Perera L, Longley MJ, Krahn JM, Williams JG, Dutcher R, Borgnia MJ, Copeland WC. 2022. Structural insight and characterization of human Twinkle helicase in mitochondrial disease. PNAS. 119(32) e2207459119. [ Full Text More Information: NIEHS News Release: NIH First to Develop 3D Structure of Twinkle Protein Genome Integrity & Structural Biology Laboratory Back to Top Last Reviewed: January 07, 2026