Unexplained gastrointestinal symptoms: Think mitochondrial disease

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Unexplained gastrointestinal symptoms: Think mitochondrial disease Thomas P. Chapman, Gina Hadley, Carl Fratter, Sue N. Cullen, Bridget E. Bax, Murray D. Bain, Robert A. Sapsford, Joanna Poulton, Simon P. Travis Digestive and Liver Disease Volume 46, Issue 1, Pages 1-8 (January 2014) DOI: 10.1016/j.dld.2013.04.008 Copyright © 2013 Editrice Gastroenterologica Italiana S.r.l. Terms and Conditions

Fig. 1 Diagram of the human mitochondrial genome and sites of mutations leading to important clinical phenotypes. Adapted from “Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease” by Johns [7]. The 16,569np mtDNA map demonstrates the genes for the subunits of NADH dehydrogenase (ND), cytochrome c oxidase (COX), cytochrome b (cyt b), ribosomal RNA (12S and 16S) and ATPase (A6 and A8). LHON, Leber's hereditary optic neuropathy; MELAS, syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes; LS, Leigh's syndrome; NARP, neuropathy, ataxia and retinitis pigmentosa; MILS, maternally inherited Leigh's syndrome; MERRF, myoclonic epilepsy with ragged-red fibres. Digestive and Liver Disease 2014 46, 1-8DOI: (10.1016/j.dld.2013.04.008) Copyright © 2013 Editrice Gastroenterologica Italiana S.r.l. Terms and Conditions

Fig. 2 The genetic pedigree of family A. Digestive and Liver Disease 2014 46, 1-8DOI: (10.1016/j.dld.2013.04.008) Copyright © 2013 Editrice Gastroenterologica Italiana S.r.l. Terms and Conditions

Fig. 3 Southern analysis. PvuII digest confirmed the presence of an approximately 5kb (sized as 4.9kb) rearrangement in muscle DNA from the son (AB) and mother (BB); the proportion of rearrangement in the son was approximately 30%, and in the mother approximately 10%. SnaBI digest showed that the major rearranged species in son and mother is single deletion; a low level of deletion dimer was detected in the mother; a low level of duplication and very low level of deletion dimer was detected in the son. Digestive and Liver Disease 2014 46, 1-8DOI: (10.1016/j.dld.2013.04.008) Copyright © 2013 Editrice Gastroenterologica Italiana S.r.l. Terms and Conditions

Fig. 4 Schematic diagram of mitochondrial DNA showing the location of SnaBI and PvuII restriction enzyme recognition sites, and illustrating rearranged mtDNA molecules which commonly occur in patients with mtDNA rearrangements. The most commonly deleted region is indicated as a dashed line. Digestive and Liver Disease 2014 46, 1-8DOI: (10.1016/j.dld.2013.04.008) Copyright © 2013 Editrice Gastroenterologica Italiana S.r.l. Terms and Conditions