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The most common subtypes of amyotrophic lateral sclerosis (ALS), a type of motor neurone disease, and frontotemporal dementia (FTD) is caused by a hexanucleotide expansion in C9orf72 . This leads the aberrant production of dipeptide-repeat proteins that cause toxicity and neuronal cell death. Researchers from the...

Mitochondria are essential for cell function and contain their own genome (mtDNA). Mutations of mtDNA are a major cause of inherited disease but it is known why they target some organs and not others. In a research study led by Patrick Chinnery and recently published in Cell , Cambridge researchers used high-throughput...

Mitochondria are dynamic organelles that undergo membrane remodeling events in response to metabolic alterations to generate an adequate mitochondrial network. These dynamic shape transitions are regulated by cycles of fusion and fission events and are critical to maintain cellular homeostasis. A research article published...

The development of curative treatments for mitochondrial diseases, which are often caused by mutations in mitochondrial DNA (mtDNA) that impair energy metabolism and other aspects of cellular homoeostasis, is hindered by an incomplete understanding of the underlying biology and a scarcity of cellular and animal models. Dr...