Golga2-KO Mouse

GOLGA2, also known as GM130, is a cis-Golgi matrix protein. It plays a crucial role in glycosylation and transport of proteins in the secretory pathway. It is also involved in vesicle tethering, cell proliferation, and autophagy [1,3]. Genetic models, such as knockout mouse models, are valuable for studying its functions.

The deletion of GOLGA2 in mice induces autophagy with Golgi disruption. This autophagy induction leads to fibrosis along with the reduction of subcellular lipid storage in the lung and liver, indicating associations among Golgi function, fibrosis, and autophagy [2]. In addition, knockdown of golga2 in zebrafish resulted in severe skeletal muscle disorganization and microcephaly, suggesting an important developmental role of GM130 in vertebrates [4]. A human patient with a homozygous loss-of-function mutation in GOLGA2 presented a neuromuscular disorder, and a second consanguineous family with bi-allelic loss-of-function mutations showed microcephaly, seizures, and myopathy, emphasizing the critical developmental requirement of GOLGA2 [4,5].

In conclusion, GOLGA2 is essential for normal development and physiological functions, being involved in processes like autophagy, protein transport, and glycosylation. Studies using gene-knockout models in mice and zebrafish have revealed its role in neuromuscular disorders and fibrosis, contributing to our understanding of the underlying mechanisms and potential therapeutic targets for related diseases.