Article
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
Psychiatry and clinical neurosciences - 1 Aug 2017
Kasahara Takaoki, Ishiwata Mizuho, Kakiuchi Chihiro, Fuke Satoshi, Iwata Nakao, Ozaki Norio, Kunugi Hiroshi, Minabe Yoshio, Nakamura Kazuhiko, Iwata Yasuhide, Fujii Kumiko, Kanba Shigenobu, Ujike Hiroshi, Kusumi Ichiro, Kataoka Muneko, Matoba Nana, Takata Atsushi, Iwamoto Kazuya, Yoshikawa Takeo, Kato Tadafumi
Abstract excerpt
AIM: Rare missense variants, which likely account for a substantial portion of the genetic 'dark matter' for a common complex disease, are challenging because the impacts of variants on disease development are difficult to substantiate. This study aimed to examine the impacts of amino acid substitution variants in the POLG1 found in bipolar disorder, as an example and proof of concept, in three different...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.