Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid β-oxidation
AM Schuler, BA Gower, D Matern, P Rinaldo… - Molecular genetics and …, 2005 - Elsevier
We have used mice with inborn errors of mitochondrial fatty acid β-oxidation to test the
concept of synergistic heterozygosity. We postulated that clinical disease can result from
heterozygous mutations in more than one gene in single or related metabolic pathways.
Mice with combinations of mutations in mitochondrial fatty acid β-oxidation genes were cold
challenged to test their ability to maintain normal body temperature, a sensitive indicator of
overall β-oxidation function. This included mice of the following genotypes: triple …
concept of synergistic heterozygosity. We postulated that clinical disease can result from
heterozygous mutations in more than one gene in single or related metabolic pathways.
Mice with combinations of mutations in mitochondrial fatty acid β-oxidation genes were cold
challenged to test their ability to maintain normal body temperature, a sensitive indicator of
overall β-oxidation function. This included mice of the following genotypes: triple …