Ahdc1, also known as AT-hook DNA-binding motif-containing protein 1, is associated with intellectual disability/developmental delay in humans. Its biological role has been under investigation, and genetic models are valuable for understanding it [2,3,4,5,6,7].

In a study generating Ahdc1-deficient mouse lines, Ahdc1 deficiency in both male and female mice led to adiposity from weaning and obesity. This was characterized by reduced energy expenditure and respiratory quotient, along with progressive development of hyperleptinemia, insulin resistance, abnormal glycolipid metabolism, and fatty liver. These findings suggest Ahdc1 is a novel key regulator of obesity and energy metabolism [1].

In conclusion, Ahdc1 is a crucial gene. The Ahdc1-deficient mouse model reveals its significance in regulating obesity and energy metabolism, providing new insights into the physiological mechanisms of obesity.

References:

1. Li, Linyi, Shao, Shipeng, Wang, Yu, Li, Fan, Qin, Yanwen. 2023. Ahdc1 is a potent regulator of obesity and energy metabolism. In American journal of physiology. Endocrinology and metabolism, 325, E638-E648. doi:10.1152/ajpendo.00048.2023. https://pubmed.ncbi.nlm.nih.gov/37819197/

2. Khayat, Michael M, Hu, Jianhong, Jiang, Yunyun, Murdock, David, Gibbs, Richard A. 2021. AHDC1 missense mutations in Xia-Gibbs syndrome. In HGG advances, 2, . doi:10.1016/j.xhgg.2021.100049. https://pubmed.ncbi.nlm.nih.gov/34950897/

3. Cardoso-Dos-Santos, Augusto C, Oliveira Silva, Thiago, Silveira Faccini, Anderson, Schuler-Faccini, Lavinia, de Oliveira Poswar, Fabiano. 2020. Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome. In Molecular syndromology, 11, 24-29. doi:10.1159/000505843. https://pubmed.ncbi.nlm.nih.gov/32256298/

4. Chander, Varuna, Mahmoud, Medhat, Hu, Jianhong, Sedlazeck, Fritz J, Gibbs, Richard A. 2022. Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. In Human mutation, 43, 2033-2053. doi:10.1002/humu.24461. https://pubmed.ncbi.nlm.nih.gov/36054313/

5. Carvalho, Laura Machado Lara, Branco, Elisa Varella, Sarafian, Raquel Delgado, Krepischi, Ana Cristina Victorino, Rosenberg, Carla. 2023. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome. In Gene, 871, 147424. doi:10.1016/j.gene.2023.147424. https://pubmed.ncbi.nlm.nih.gov/37054903/

6. Salvati, Andrea, Biagioni, Tommaso, Ferrari, Anna Rita, Brovedani, Paola, Bartolini, Emanuele. 2022. Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair. In Seizure, 99, 127-130. doi:10.1016/j.seizure.2022.05.020. https://pubmed.ncbi.nlm.nih.gov/35636160/

7. Bertrand, Miriam, Shah, Gulalai, Pedersen, Brent S, Haack, Tobias B, Husain, Ralf A. 2024. De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome. In Molecular syndromology, 15, 389-397. doi:10.1159/000538918. https://pubmed.ncbi.nlm.nih.gov/39359946/