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Two birds with one cilium; PKD and Epilepsy

Genes that cause PKD could also make you more susceptible to seizures in the brain

Review written by Phillip Bokinic

PhD Candidate, Macquarie University

Cells can sense changes in their external environment through a tiny hair-like antenna known as “cilia”. Within the kidney, these sensory antennae are tightly linked to the development of polycystic kidney disease (PKD), as the disrupted genes that cause PKD are all proteins that are expressed in cilia or linked to cilia function, hence the reason PKD is part of a group of diseases called ciliopathies. Recently, a link between cilia on nerves and PKD-related genes has been found in the brain. Published in Human Molecular Genetics, Jing Zhou’s team from Harvard Medical School in Boston have discovered how two proteins found on cilia in the brain can control the activity of a nerve and critically, predispose the brain to epilepsy (1).

What happens behind the lab doors?

Guest Post – Vanessa Cullen

It is reassuring to know that we, with PKD, are not being forgotten or neglected in spite of having a little known disease. Until recently I really wondered if there was any research going on in Australia into PKD. There was no info around and it seemed that whilst every other part of the world was getting Tolvaptan approved as a treatment, nothing was happening here. I am glad to say I was wrong. Some pretty brilliant people do in fact care…

I am currently a participant in a Hydration Study looking to discover whether prescribed hydration volumes have any effect on PKD. I’m in the control group so that pretty much means life goes on as normal. For those in the test group they have to drink specified amounts of water each day for durations of many months before their bloodwork and MRI results will be taken again and compared.

I am also participating in the SONG-PKD Study which is a questionnaire and focus group based study into establishing core outcomes for PKD research based on the shared priorities of patients with PKD, their family and health professionals. This is an international study being run out of the University of Sydney – pretty cool!

I am determined to understand

Guest Post – Conor Underwood – PhD student, Macquarie University

Whilst currently I am an active PKD researcher, my initial encounter with PKD was not an academic one. When I was a child my grandfather was diagnosed with PKD (the adult-onset or “autosomal dominant” form). His story, as I would later learn, was all too common among those with PKD; he underwent years of dialysis therapy and unfortunately passed away from complications relating to high blood pressure and poor heart health.

Fast forward the best part of a decade to the summer of 2012 and I was completing the final year of my undergraduate studies and was in the process of deciding where to undertake medical research placement. It was then that I discovered the work of Professor Jacqueline Phillips who was investigating PKD using a novel rat model of the disease. Much to my delight, the aspects of PKD that Professor Phillips’ team were researching – particularly high blood pressure and heart dysfunction – aligned perfectly with my interests in physiology and neuroscience. Needless to say, I had found the research team that I would spend the summer with.

Joining the Fight

Guest Post – Vanessa Cullen

Before PKD Australia was launched I wondered if anyone in Australia was actually researching to find potential treatments and a cure for a reasonably rare disease. I wondered if people with PKD weren’t such an insignificant minority. It can be a lonely place to be when you have PKD.

Of course I was delighted when PKD Australia was formed with the intent to fund research and when I attended the launch to see the first round of grant recipients receive their funding. Upon seeing that multiple studies were underway, my next thought was to how I could join these studies as a volunteer and directly contribute to the fight to end PKD?

A conversation at the launch event with a nephrologist from Westmead Hospital, Dr Gopi Rangan, led to my receiving an invitation to undergo screening for eligibility in a research study investigating whether prescribed hydration (consumption of filtered water according to prescribed quantities) would have any impact on the disease and cyst size. This question has come about as a result of positive outcomes of Tolvaptan drug trials in people with PKD. The drug appears to slow progression of the disease however is it the drug itself that has the positive impact or is it the fact that the drug makes people drink and urinate large amounts of water? Which is the beneficial component … the drug or the side effect (the increased consumption of water)?

The Future will be different

Guest Post – Dr Andrew Mallett

When I was a fourth year medical student in Townsville I met a man who had ADPKD. Apart from taking his medical history, meeting him sparked for me an interest in renal medicine, physiology and pathophysiology. “What are nephrons? How do they work? Why do they fail?” were just some of the questions that this seemingly straightforward clinical encounter made me ask.

How I became interested in cysts

Guest Post – Michelle Ta, PhD Student

I first came across polycystic kidney diseases (PKD) during the summer of 2010, when I decided to undertake some laboratory work at Macquarie University. Under the supervision of Professor Jacqueline Phillips, I stained kidney tissue to determine whether there are regions that are deprived of oxygen within polycystic kidneys. This sparked my curiosity in PKD. I was simultaneously amazed and baffled by the phenomenon that is cyst growth – what causes these cysts to form, and can we target any biological ‘pathways’ using particular drugs? These questions led me to undertake postgraduate research in PKD with Associate Professor Gopala Rangan and Professor David Harris at the Westmead Institute for Medical Research.

At the heart of the matter

Thoughts from a PKD Researcher – Jackie Phillips, Macquarie University

How did I get here? 

My introduction to PKD was through high blood pressure, my research area, and a chance discussion with a veterinary colleague who mentioned they had a strain of animals with what looked like PKD. I already knew kidney disease was linked to high blood pressure and so began my journey in 2005.

Fast forward 10 years and I have published 20 articles about PKD ranging from identifying a genetic mutation, anaemia, abnormal heart function, brain wiring to novel treatments for hypertension. Along the way I have met amazing researchers trying to work out how the gene mutations result in disease through to clinicians who’ve helped me understand treatment priorities.

PKD patients, top of my list

Guest Post By Anne-Marie Desai
Renal Dietitian

This being my first blog, I thought I would tell you a bit about myself and why I signed up to provide to help PKD Australia. My first experience with PKD occurred when I was working in Boston, USA where I was fortunate enough to be working with a wonderful physician whose main research interest was PKD. Through this experience I met many inspirational patients living with PKD and realised that there was a whole subgroup of patients amongst the many people that I was seeing on dialysis.

Returning to Australia, and after a few years of working in paediatrics whilst my children were young, I have again returned to the renal world and now work with patients at all stages of the renal journey. Once again, I have found this subgroup of people with PKD who just get on with things despite the health issues they face. I know you shouldn’t pick favourites, but patients with PKD tend to be at the top of my list of people I enjoy working with.

So you may be wondering what a renal dietician actually does?