www.mitogether.com, the reference website for professionals and families affected by genetic mitochondrial diseases [caption id="attachment_11905" align="aligncenter" width="1024"] Mitogether consortium[/caption] There are more than 400 forms of genetic—or primary—mitochondrial diseases linked to mutations in genes directly involved in the functioning or maintenance of mitochondria. Mitochondria are unique in that they have…..
Why are patients with mitochondrial disease more susceptible to infections? The cell at the top right is dying through caspase-11 dependent pyroptosis, the mechanism West and colleagues identified in this paper. It's mitochondria are gone and the nucleus also condensed. ©The Jackson Laboratory Patients with rare mitochondrial diseases already face a…..
New research on why mutations in a gene leads to mitochondrial disease Image of mitochondria (yellow-green) around the cell nucleus (blue). ©Dr Matthew Eramo Mitochondrial diseases are inherited, chronic illnesses that can present at birth or develop later in life and occurs when mitochondria fail to produce enough energy for…..
A novel genetic mitochondrial disorder linked to the LIG3 gene Normally, mitochondrial DNA is repaired and replicated by LIG3 activity, but if the gene contains mutations, enzymes necessary for energy production are not produced, potentially leading to central nervous system symptoms and muscle defects. © Fujita Health University DNA ligase…..
First human model for Leigh syndrome [caption id="attachment_9893" align="alignright" width="300"] Human brain organoids with mature neurons in green. ©Dr. Agnieszka Rybak-Wolf[/caption] Leigh syndrome is the most severe mitochondrial disease in children. This orphan disease causes severe muscle weakness, movement defects, and intellectual disabilities. It usually leads to death within the…..
