TY - JOUR
T1 - A review of fatty acid oxidation disorder mouse models
AU - Babcock, Shannon J.
AU - Houten, Sander M.
AU - Gillingham, Melanie B.
N1 - Publisher Copyright:
© 2023
PY - 2024/5
Y1 - 2024/5
N2 - Fatty acid oxidation disorders (FAODs) are a family of rare, genetic disorders that affect any part of the fatty acid oxidation pathway. Patients present with severe phenotypes, such as hypoketotic hypoglycemia, cardiomyopathy, and rhabdomyolysis, and currently manage these symptoms by the avoidance of fasting and maintaining a low-fat, high-carbohydrate diet. Because knowledge about FAODs is limited due to the small number of patients, rodent models have been crucial in learning more about these disorders, particularly in studying the molecular mechanisms involved in different phenotypes and in evaluating treatments for patients. The purpose of this review is to present the different FAOD mouse models and highlight the benefits and limitations of using these models. Specifically, we discuss the phenotypes of the available FAOD mouse models, the potential molecular causes of prominent FAOD phenotypes that have been studied using FAOD mouse models, and how FAOD mouse models have been used to evaluate treatments for patients.
AB - Fatty acid oxidation disorders (FAODs) are a family of rare, genetic disorders that affect any part of the fatty acid oxidation pathway. Patients present with severe phenotypes, such as hypoketotic hypoglycemia, cardiomyopathy, and rhabdomyolysis, and currently manage these symptoms by the avoidance of fasting and maintaining a low-fat, high-carbohydrate diet. Because knowledge about FAODs is limited due to the small number of patients, rodent models have been crucial in learning more about these disorders, particularly in studying the molecular mechanisms involved in different phenotypes and in evaluating treatments for patients. The purpose of this review is to present the different FAOD mouse models and highlight the benefits and limitations of using these models. Specifically, we discuss the phenotypes of the available FAOD mouse models, the potential molecular causes of prominent FAOD phenotypes that have been studied using FAOD mouse models, and how FAOD mouse models have been used to evaluate treatments for patients.
KW - Cardiomyopathy
KW - Exercise
KW - Fatty acid β-oxidation
KW - Gene addition
KW - Hypoglycemia
KW - Inborn errors of metabolism
KW - Mouse models
UR - http://www.scopus.com/inward/record.url?scp=85186509506&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2024.108351
DO - 10.1016/j.ymgme.2024.108351
M3 - Review article
AN - SCOPUS:85186509506
SN - 1096-7192
VL - 142
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 1
M1 - 108351
ER -