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Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients

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Title: Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients
Authors: Konishi, Hiroyuki Browse this author
Okuda, Ayaka Browse this author
Ohno, Yusuke Browse this author
Kihara, Akio Browse this author →KAKEN DB
Keywords: Arrhythmogenic right venticular dysplasia
fatty acid
very long-chain fatty acid
Issue Date: Nov-2010
Publisher: Oxford University Press
Journal Title: Journal of Biochemistry
Volume: 148
Issue: 5
Start Page: 617
End Page: 622
Publisher DOI: 10.1093/jb/mvq092
PMID: 20724468
Abstract: Arrhythmogenic right ventricular dysplasia (ARVD) is an autosomal dominant heart disease. A K64Q mutation was found in ARVD-affected individuals in the HACD1 gene, which encodes an enzyme involved in very long-chain fatty acid (VLCFA) elongation, although any relationship between mutation and pathology remained unclear. Here, we demonstrate that HACD1 (K64Q) exhibits normal enzyme activity, intracellular localization, and interaction with other VLCFA enzymes, with no dominant negative effect on VLCFA elongation. Thus, it appears unlikely that this mutation is ARVD-causative. Moreover, through these analyses we found that HACD1 interacts with KAR and TER, the reductase enzymes involved in the second and fourth VLCFA elongation cycle, respectively. This finding indicates that the enzymes responsible for the VLCFA elongation cycle form an elongase complex.
Rights: This is a pre-copy-editing, author-produced PDF of an article accepted for publication in Journal of Biochemistry following peer review. The definitive publisher-authenticated version J Biochem (2010) 148(5): 617-622 is available online at:
Type: article (author version)
Appears in Collections:薬学研究院 (Faculty of Pharmaceutical Sciences) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 木原 章雄

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