CKAP2L Controls Cell Division and Cilia in Filippi Syndrome

( 12.24.25  )                                    Written by Gio Kim          

Filippi syndrome is a rare genetic disorder with fewer than 40 cases worldwide. People with the condition often have distinct signs such as small heads, fused fingers or toes, and slow growth. Currently, it is known that Filippi syndrome is caused by mutations in the CKAP2L gene, as studies indicate that CKAP2L deficiency disrupts mitosis. However, the exact mechanism of how CKAP2L controls cell division remains largely unknown.

In this study, researchers aimed to investigate the role of CKAP2L in the body; they created mice lacking CKAP2L to study its function. After gathering tissues from the mice, they found that CKAP2L is the most abundant in the testis (male reproductive gland). Moreover, fluorescent markers help researchers discover that CKAP2L was found at centrosomes, mitotic spindles, and cilia in the cells.

The knockout mice mostly developed normally; however, the cells were found with shorter spindles, failed cell divisions, and had abnormally long cilia. Male mice were discovered with lower fertility due to decreased sperm count, abnormally long flagella, and had impaired mobility.

This discovery reveals a previously unknown way that CKAP2L helps with cell division and cilia regulation. As of this moment, the researchers proposed that the Filippi syndrome be classified as a centrosomopathy. Understanding CKAP2L’s role in cellular division can help with future treatments such as gene therapy.

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You can read the full paper here:

https://academic.oup.com/jmcb/advance-article/doi/10.1093/jmcb/mjaf054/8376638?login=false