scholarly journals Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses

PLoS Genetics ◽  
2017 ◽  
Vol 13 (7) ◽  
pp. e1006921 ◽  
Author(s):  
Carmen Navarro-González ◽  
Ismaïl Moukadiri ◽  
Magda Villarroya ◽  
Ernesto López-Pascual ◽  
Simon Tuck ◽  
...  
1997 ◽  
Vol 43 (1) ◽  
pp. 158-161 ◽  
Author(s):  
Andrew Hutchesson ◽  
Mary Anne Preece ◽  
George Gray ◽  
Anne Green

Abstract Measurement of lactate concentrations in cerebrospinal fluid (CSF) has been suggested as part of the investigation of inborn errors of the electron transport chain, but little information exists regarding the reference range in children or the relationship between CSF and plasma concentrations. In 39 children without bacterial meningitis, diabetes, or recent seizures, we determined that the median (range) lactate concentrations in CSF and plasma collected concurrently were 1.4 (0.8–2.2) and 1.5 (0.6–2.3) mmol/L; the regression equation was CSF lactate = (0.38 ± 0.06) plasma lactate + 0.83 (r2 = 0.14). In 8 of 11 (73%) children with electron transport chain defects, CSF lactate was ≥3.0 mmol/L; however, 2 of these 8 had a normal plasma lactate concentration. CSF lactate was also increased in 2 children with nonketotic hyperglycinemia. The finding that CSF lactate concentrations may be increased despite a normal plasma lactate value in children with electron transport chain defects is an important clue to the diagnosis of these disorders.


eLife ◽  
2020 ◽  
Vol 9 ◽  
Author(s):  
June H Tan ◽  
Margot Lautens ◽  
Laura Romanelli-Cedrez ◽  
Jianbin Wang ◽  
Michael R Schertzberg ◽  
...  

Parasitic helminths use two benzoquinones as electron carriers in the electron transport chain. In normoxia, they use ubiquinone (UQ), but in anaerobic conditions inside the host, they require rhodoquinone (RQ) and greatly increase RQ levels. We previously showed the switch from UQ to RQ synthesis is driven by a change of substrates by the polyprenyltransferase COQ-2 (Del Borrello et al., 2019; Roberts Buceta et al., 2019); however, the mechanism of substrate selection is not known. Here, we show helminths synthesize two coq-2 splice forms, coq-2a and coq-2e, and the coq-2e-specific exon is only found in species that synthesize RQ. We show that in Caenorhabditis elegans COQ-2e is required for efficient RQ synthesis and survival in cyanide. Importantly, parasites switch from COQ-2a to COQ-2e as they transit into anaerobic environments. We conclude helminths switch from UQ to RQ synthesis principally via changes in the alternative splicing of coq-2.


PLoS ONE ◽  
2011 ◽  
Vol 6 (11) ◽  
pp. e26963 ◽  
Author(s):  
Michael P. Siegel ◽  
Shane E. Kruse ◽  
Gary Knowels ◽  
Adam Salmon ◽  
Richard Beyer ◽  
...  

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