RESEARCH IN
PROGRESS



Cilia, asymmetry, and genetic disease

Dr Susana Lopes and her team at the LYSOCIL project are investigating rare genetic diseases affecting the cilia, and how these can be modelled using zebrafish to better understand them, bringing us closer to potential treatments. The team have showed that levels of the Polycystin 2 protein, modulated in potential mechanosensory cilia, are critical for the normal development of an embryo.



The Cytoskeleton and Cellular Compartmentation: Cilia as Specialized Cellular Domains
Susana Lopes from CEDOC-NMS is editor in this research topic from the Frontiers journal.

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis
This study identifies that the levels of mitochondrial function can be a determinant for ciliogenesis, affecting cilia-dependent processes, and therefore a cause for heterotaxy.

Proteome of the central apparatus of a ciliary axoneme
Nearly all motile cilia have a configuration containing a central apparatus that guarantees their motility. This study identified novel candidate proteins of the central apparatus, some of them conserved in humans, meaning that they do not tend to change, which can facilitate genetic screening to identify patients with a form of primary ciliary dyskinesia that has been difficult to diagnose.

A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia
This study identifies de gene Dnaaf2 as an essential component of cilia function, with mutations that cause partial loss of this gene’s function, resulting in ciliary dyskinesia in mice.

Altered airway ciliary orientation in patients with X-linked retinitis pigmentosa
This study investigated if patients with X-linked retinitis pigmentosa have abnormal airway ciliary structure or function, showing that mutations in the genes causing this disorder, which affect non-motile cilia of the photoreceptors in the retina, can have effects on motile cilia in the respiratory tract.

ARL13B, a Joubert syndrome-associated protein, is critical for retinogenesis and elaboration of mouse photoreceptor outer segments
This study identifies the complex role of ARL13B, whose mutations lead to Joubert Syndrome and visual impairment, at the different stages of photoreceptor development, viability and function.