Article
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.
Human molecular genetics - 21 Mar 2022
Kenvin Sebastian, Torregrosa-Muñumer Ruben, Reidelbach Marco, Pennonen Jana, Turkia Jeremi J, Rannila Erika, Kvist Jouni, Sainio Markus T, Huber Nadine, Herukka Sanna-Kaisa, Haapasalo Annakaisa, Auranen Mari, Trokovic Ras, Sharma Vivek, Ylikallio Emil, Tyynismaa Henna
Abstract excerpt
Mutations in mitochondrial DNA encoded subunit of ATP synthase, MT-ATP6, are frequent causes of neurological mitochondrial diseases with a range of phenotypes from Leigh syndrome and NARP to ataxias and neuropathies. Here we investigated the functional consequences of an unusual heteroplasmic truncating mutation m.9154C>T in MT-ATP6, which caused peripheral neuropathy, ataxia and IgA nephropathy. ATP synthase not...
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