Radiologic manifestation of a BCS1L-mutated patient
-
Evrim Özmen
,
Havva Akmaz Ünlü
Abstract
There are various phenotypes of mutations in BCS1L which encode a mitochondrial inner membrane protein that facilitates the insertion of Rieske iron-sulfur protein into respiratory chain complex III. Herein we report the radiologic findings of a patient with bc1 synthesis-like (BCS1L) gene mutation who was presented with convulsions.
References
1. Al-Owain M, Colak D, Albakheet A, Al-Younes B, Al-Humaidi Z, et al. Clinical and biochemical features associated with BCS1L mutation. J Inherit Metab Dis 2012, [Epub ehead of print].Search in Google Scholar
2. DiMauro S, Garone C. Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain. Semin Fetal Neonatal Med 2011;16:181–9.Search in Google Scholar
3. Fellman V, Lemmela S, Sajantila A, Pihko H, Jarvela I. Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause. J Hum Genet 2008;53:554–8.Search in Google Scholar
4. Fellman V, Kotarsky H. Mitochondrial hepatopathies in the newborn period. Semin Fetal Neonatal Med 2011;16:222–8.Search in Google Scholar
5. Moràn M, Marin-Buera L, Gil-Borlado MC, Rivera H, Blàzquez A, et al. Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. Hum Mutat 2010;3:930–41.Search in Google Scholar
6. de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001;29:57–60.Search in Google Scholar
7. Levéen P, Kotrasky H, Mörgelin M, Karioski R, Elmér E, et al. The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. Hepathology 2011;53:437–47.Search in Google Scholar
8. Kotarsky H, Karikoski R, Mörgelin M, Marjavaara S, Bergman P, et al. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion 2010;10:497–509.Search in Google Scholar
9. Katarsky H, Keller M, Davoudi M, Leeven P, Karioski R, et al. Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation. PLoS One 2012;7:e41156.Search in Google Scholar
10. Begriche K, Igoudjil A, Pessayre D, Fromenty B. Mitochondrial dysfunction in NASH: causes, consequences and possible means to prevent it. Mitochondrion 2006;6: 1–28.Search in Google Scholar
11. Fellman V. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Blood Cells Mol Dis 2002;29: 444–50.Search in Google Scholar
12. Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, et al. GRACILE Syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet 2002;71:863–76.Search in Google Scholar
©2014 by Walter de Gruyter Berlin Boston
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