Abstract:
:It has been suggested that deficient protein trafficking to the cell membrane is the dominant mechanism associated with type 2 Long QT syndrome (LQT2) caused by Kv11.1 potassium channel missense mutations, and that for many mutations the trafficking defect can be corrected pharmacologically. However, this inference was based on expression of a small number of Kv11.1 mutations. We performed a comprehensive analysis of 167 LQT2-linked missense mutations in four Kv11.1 structural domains and found that deficient protein trafficking is the dominant mechanism for all domains except for the distal carboxy-terminus. Also, most pore mutations--in contrast to intracellular domain mutations--were found to have severe dominant-negative effects when co-expressed with wild-type subunits. Finally, pharmacological correction of the trafficking defect in homomeric mutant channels was possible for mutations within all structural domains. However, pharmacological correction is dramatically improved for pore mutants when co-expressed with wild-type subunits to form heteromeric channels.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Anderson CL,Kuzmicki CE,Childs RR,Hintz CJ,Delisle BP,January CTdoi
10.1038/ncomms6535subject
Has Abstractpub_date
2014-11-24 00:00:00pages
5535issn
2041-1723pii
ncomms6535journal_volume
5pub_type
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