Slc44a1-KO Mouse

Slc44a1, also known as choline transporter-like protein 1 (CTL1), is a recently discovered choline transporter. It has an intermediate affinity for choline, with its transport being Na(+)-independent and sensitive to inhibition by hemicholinium-3. Choline is crucial for metabolite synthesis, epigenetic regulation, and is involved in processes like cell membrane integrity, cholinergic neurotransmission, and methylation [1,5].

Some key findings related to Slc44a1 include its association with cognitive improvement in children diagnosed with fetal alcohol spectrum disorder. Genetic polymorphisms in Slc44a1 are associated with performance in cognitive tasks, and certain alleles are related to greater vulnerability to choline deficiency [3]. Also, in papillary glioneuronal tumors (PGNT), the SLC44A1-PRKCA fusion is a characteristic alteration, suggesting it could be a potential biomarker for PGNT [2,4,6].

In conclusion, Slc44a1 is an important choline transporter with implications in cognitive function and in certain tumorigenesis, especially in PGNT. The study of Slc44a1 through genetic polymorphisms and fusion gene analysis has provided insights into its role in these biological processes and disease conditions [2,3,4,6].

References:

1. Michel, Vera, Bakovic, Marica. . The ubiquitous choline transporter SLC44A1. In Central nervous system agents in medicinal chemistry, 12, 70-81. doi:. https://pubmed.ncbi.nlm.nih.gov/22483272/

2. Nagaishi, Masaya, Nobusawa, Sumihito, Matsumura, Nozomi, Yokoo, Hideaki, Nakazato, Yoichi. 2015. SLC44A1-PRKCA fusion in papillary and rosette-forming glioneuronal tumors. In Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 23, 73-75. doi:10.1016/j.jocn.2015.04.021. https://pubmed.ncbi.nlm.nih.gov/26260115/

3. Smith, Susan M, Virdee, Manjot S, Eckerle, Judith K, Zeisel, Steven H, Wozniak, Jeffrey R. . Polymorphisms in SLC44A1 are associated with cognitive improvement in children diagnosed with fetal alcohol spectrum disorder: an exploratory study of oral choline supplementation. In The American journal of clinical nutrition, 114, 617-627. doi:10.1093/ajcn/nqab081. https://pubmed.ncbi.nlm.nih.gov/33876196/

4. Bridge, Julia A, Liu, Xiao-Qiong, Sumegi, Janos, Bowdino, Bradley S, McComb, Rodney D. 2012. Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor. In Brain pathology (Zurich, Switzerland), 23, 121-8. doi:10.1111/j.1750-3639.2012.00612.x. https://pubmed.ncbi.nlm.nih.gov/22725730/

5. Wortmann, Saskia B, Mayr, Johannes A. 2019. Choline-related-inherited metabolic diseases-A mini review. In Journal of inherited metabolic disease, 42, 237-242. doi:10.1002/jimd.12011. https://pubmed.ncbi.nlm.nih.gov/30681159/

6. Pages, Melanie, Lacroix, Ludovic, Tauziede-Espariat, Arnault, Chretien, Fabrice, Varlet, Pascale. 2015. Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion. In Acta neuropathologica communications, 3, 85. doi:10.1186/s40478-015-0264-5. https://pubmed.ncbi.nlm.nih.gov/26671581/