Bench to Bedside: Ciliopathies and Retinal Degeneration, Part 1 - Wallace Marshall

www.ibiology.org/human-diseas...
Dr. Marshall begins with an overview of the complex internal structure of cilia and flagella and the machinery, called intraflagellar transport (IFT), required to build and maintain these structures. Mutations in motile cilia were known to cause several human diseases but it wasn't until scientists began studying IFT in the green algae Chlamydomonas, that the key role of non-motile cilia in human health and development was recognized. Marshall describes how mutations in cilia and basal bodies can cause human diseases as different as renal failure and retinal degeneration.
In the second video, Dr. Duncan explains that the inner segment of photoreceptor cells, where proteins are made, and the outer segment, where light is transduced into a chemical signal, are joined by connecting cilia. Mutations in proteins that localize to the connecting cilia can lead to photoreceptor cell death and vision loss. In a number of syndromic diseases, such as Bardet-Biedl Syndrome, retinal degeneration is just one of several symptoms all of which are caused by mutations in cilia throughout the body. By identifying specific gene mutations causing retinal degeneration, Duncan hopes that better treatments for patients with these syndromes will be developed.
About Wallace Marshall
Wallace Marshall received his BE in Electrical Engineering and his BS in Biochemistry from SUNY Stony Brook and his PhD in Biochemistry from the University of California, San Francisco. He was a post-doctoral fellow at Yale University.
Currently, Marshall is a Professor of Biochemistry and Biophysics at UCSF. His lab is interested in the question of how cells count and measure. For example, how does a cell know how long its flagella should be? Or how many centrioles it has (or should have) and where they should be within the cell? Many of these questions are addressed using the single celled organisms Chlamydomonas reinhardtii, Stentor coeruleus, and budding yeast.

[@StewartChaimson]

Fascinating subject, thank you very much for making this!

[@fykidne]

Fantastic! Must reviews for nephrology fellows and practitioners

[@ritaj8946]

Very useful, would be greately appreciated to have an explanation of the function of cilia in other tissues.

[@sirranhaal3099]

That was fascinating. How much is known about the primary cilium in the cerebral cortex?

[@BhavyaKansal18]

Around 13:47 it has been mentioned that PKD is not the only *disease of Primary Cilium*.
But previously it was mentioned that primary cilia have no sensory or motile function. While At the collecting duct it does show sensory function.
So can you tell what exactly is PKD caused by?

[@p.m.satyanarayana8505]

Hi, the primary cilum has "sensory" roles and are non-motile. It senses the flow of urine through proteins which regulate calcium levels. Calcium ions seem to control several downstream molecules leading to cyst formation.
Without sensing, cilia can't do all these functions, right?

[@cherylm2C6671]

13:00 Is it possible that the misdirected diuretic signal to draw water from plasma is also responsible for kidney stones?