Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

ConclusionThe marked reduction of aconitase activity in patient fibroblasts was due to the combination of decreased aconitase 2 amount and activity due to mutations. Reduced aconitase activity directly suppresses the TCA cycle, resulting in mitochondrial dysfunction, which may lead to symptoms similar to those observed in mitochondrial diseases.

Source: Molecular Genetics & Genomic Medicine - May 19, 2019 Category: Genetics & Stem Cells Authors: Masahide Fukada, Keitaro Yamada, Shima Eda, Ken Inoue, Chihiro Ohba, Naomichi Matsumoto, Hirotomo Saitsu, Atsuo Nakayama Tags: ORIGINAL ARTICLE Source Type: research