TLDR Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
The study developed a tamoxifen-induced Cre/LoxP Cbs−/− mouse model to investigate the effects of CBS deficiency and severe homocysteinemia (HHCy). Despite severe HHCy, the mice showed minimal pathology during aging, including no significant organ damage, but did exhibit facial alopecia, endothelial dysfunction, and increased oxidative stress. The alopecia was linked to disturbed follicular integrity rather than skin thickness. The findings suggest that HHCy alone does not drive end-organ damage and highlight the role of CBS in hair maintenance, particularly in sebaceous glands.
14 citations,
October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
29 citations,
December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
28 citations,
November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
3 citations,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
29 citations,
January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
11 citations,
January 2013 in “Methods in molecular biology” The method allows for 3D tracking of hair follicle stem cells and shows they can regenerate hair for up to 180 days.
39 citations,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Fatp4 is crucial for healthy skin development and function.
23 citations,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.