CCDC51, also called MITOK, encodes a mitochondrial coiled-coil domain-containing protein. It is involved in mitochondrial fission dynamics and inner membrane organization, and is crucial for maintaining normal mitochondrial dynamics and organelle homeostasis [2,3]. Mitochondrial proteins like CCDC51 are of great biological importance as mitochondria play key roles in energy production and cell survival. Genetic models are valuable for studying its functions.

In a patient from a consanguineous family with a relatively mild rod-cone dystrophy, a homozygous frameshift variant in CCDC51 was identified, suggesting its potential role in non-syndromic inherited retinal disorders [1]. Knockdown of CCDC51 in human cells led to reduced rates of mitochondrial fission, and overexpression promoted its association with Drp1 and induced mitochondrial fragmentation, indicating it is a positive effector of mitochondrial fission [3].

In conclusion, CCDC51 is an important mitochondrial protein involved in mitochondrial fission. Its study through genetic models has provided insights into its role in non-syndromic inherited retinal disorders, highlighting its significance in understanding the mechanisms of such diseases.

References:

1. Zeitz, Christina, Méjécase, Cécile, Michiels, Christelle, Sahel, José-Alain, Audo, Isabelle. 2021. Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy. In International journal of molecular sciences, 22, . doi:10.3390/ijms22157875. https://pubmed.ncbi.nlm.nih.gov/34360642/

2. Edington, Alia R, Connor, Olivia M, Marlar-Pavey, Madeleine, Friedman, Jonathan R. 2024. Human CCDC51 and yeast Mdm33 are functionally conserved mitochondrial inner membrane proteins that demarcate a subset of organelle fission events. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.03.21.586162. https://pubmed.ncbi.nlm.nih.gov/38562768/

3. Edington, Alia R, Connor, Olivia M, Love, Abigail C, Marlar-Pavey, Madeleine, Friedman, Jonathan R. 2024. Functionally conserved inner mitochondrial membrane proteins CCDC51 and Mdm33 demarcate a subset of fission events. In The Journal of cell biology, 224, . doi:10.1083/jcb.202403140. https://pubmed.ncbi.nlm.nih.gov/39718510/