WSU Knockout Mice are New Model for Rare Human Disease

Peroxisomal fatty acyl-CoA reductase 1 (Far1) is a rate-limiting enzyme for ether lipid synthesis. Gene mutations in Far1 cause a rare human disease, Rhizomelic chondrodysplasia punctata (RCPD). RCPD is characterized by skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Most children diagnosed with RCPD do not live past 10 years of age. Recently, ether lipid deficiency has also been linked to other diseases as well, including Alzheimer’s disease and obesity.

In a recently published study (Pan et al, April 2023) in The FASEB Journal, Drs. Xuequn Chen, Charles Chung, Zhibing Zhang and others report on the generation and characterization of the first Far1 knockout (KO) mice. This knockout mouse was characterized by defective spermatogenesis, perinatal death, and growth retardation. However, other abnormalities were also observed in the Far1 KO mice such as metabolic defects in adult mice and neuromuscular defects in aged mice. This model provides a valuable new tool to investigate the physiological functions of ether lipids in different tissues and pathophysiology of ether lipid deficiency in human diseases, such as RCPD and others. This initial work represented a team effort from Wayne State University investigators and staff in Physiology, Reproductive Sciences, Lipidomics Core, MICR, and DLAR. In future studies, a broader collaboration with more Wayne State labs will be needed to extensively investigate this novel disease mouse model.

For more information on this exciting research, see full article link below:

Disrupted intercellular bridges and spermatogenesis in fatty acyl‐CoA reductase 1 knockout mice: A new model of ether lipid deficiency - Pan - 2023 - The FASEB Journal - Wiley Online Library

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Julie O'Connor

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Phone: 313-577-8845