Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

doi:10.1016/j.ajhg.2015.09.013

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Article

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

American journal of human genetics - 5 Nov 2015

Kishita Yoshihito, Pajak Aleksandra, Bolar Nikhita Ajit, Marobbio Carlo M T, Maffezzini Camilla, Miniero Daniela V, Monné Magnus, Kohda Masakazu, Stranneheim Henrik, Murayama Kei, Naess Karin, Lesko Nicole, Bruhn Helene, Mourier Arnaud, Wibom Rolf, Nennesmo Inger, Jespers Ann, Govaert Paul, Ohtake Akira, Van Laer Lut, Loeys Bart L, Freyer Christoph, Palmieri Ferdinando, Wredenberg Anna, Okazaki Yasushi, Wedell Anna

Abstract excerpt

S-adenosylmethionine (SAM) is the predominant methyl group donor and has a large spectrum of target substrates. As such, it is essential for nearly all biological methylation reactions. SAM is synthesized by methionine adenosyltransferase from methionine and ATP in the cytoplasm and subsequently distributed throughout the different cellular compartments, including mitochondria, where methylation is mostly...

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PMID: 26522469
DOI: 10.1016/j.ajhg.2015.09.013
PMCID: PMC4667130

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