HSP research update December 2014

Progress report from the research team


Prof. Alan Mackay-Sim
Prof. Alan Mackay-Sim


Prof. Alan Mackay-Sim


Funding for drug validation studies now secure

I was advised in October by the SP Foundation in the USA that the application for support funding in the amount of $120,000 for the drug validation studies was successful. Together with the $120,000 guaranteed by the HSP Research Foundation for these studies, means that we can proceed with confidence knowing that funding for these studies is now secure.





Dr. Yongjun Fan
Dr. Yongjun Fan


Dr. Yongjun Fan


Non-SPG4 HSP studied

Over the last few months, I have been working on nasal stem cells from HSPers with non-SPG4 mutations to develop the cell model of non-SPG4 HSP for drug screening. Previous results demonstrate that cells from HSPers with SPG4 mutations make less acetylated alpha tubulin and the organelle trafficking in these cells is dysfunctional. Drugs stabilizing microtubules were found to restore the deficits in organelle trafficking in these cells.


However, in non-SPG4 cells, we did not find reduced acetylated alpha tubulin, although there were similar functional impairments in these cells compared with SPG4 cells. Building on the work of Simon Weyers who made many important findings in non-SPG4 cells, I am verifying several protein levels that might correlate with the pathological mechanism of non-SPG4 HSP. We will organize and start writing the manuscript once this verification is complete.

Collaboration with China

Last month I presented our progress on HSP research to the Shanghai Institute of Materia Medica (SIMM), Chinese Academy of Sciences. The aim of this visit was to identify collaborators working on drug discovery and fortunately this aim has been fulfilled. A relationship with the Drug Discovery and Design Centre within the Research Division of SIMM has been established. They have particular expertise in redesigning and modifying potential drug compounds to increase their specificity and effectiveness and reduce unwanted consequences such as toxicity.

Professor Weiliang Zhu, the Director of the Drug Discovery and Design Centre will visit our lab at Griffith University from Shanghai in December to discuss collaboration on drug screening for HSP therapy with Professor Alan Mackay-Sim, the Principal Investigator of the HSP team and the Director of the National Centre for Adult Stem Cell Research.


Gautam pic smaller
Gautam Wali


Gautam Wali


Higher stress levels in HSP cells

I have been working on assessing oxidative stress levels in HSP cells. Building on the finding that the distribution and transport of peroxisomes in HSP cells is deficient, leading to impaired functioning, we hypothesised that HSP cells may have an environment of oxidative stress. To evaluate this, I examined the expression of oxidative stress marker (4HNE) in both HSP cells and in healthy control cells. This marker was found to be higher in HSP cells, implicating that they are under higher levels of stress. Higher oxidative stress levels in cells can lead to cell death. I am now evaluating if the proposed drugs which we have shown to restore low stabilized tubulin levels and defective peroxisome trafficking can also reduce the high stress levels in HSP cells.


Induced pluripotent stem cells (iPS) project

I have recently moved to the Carolyn Sue lab, Sydney to pursue the iPS project. In the initial stages, we have selected cell lines and also the experimental protocol we will be following to reprogram fibroblasts from nasal tissue of HSPers to induced pluripotent stem cells in order to build a bank of these cells for investigation and experimentation with the potential drug candidates for treating HSP.


  1. To whom this may concern: Hi I live in New York State, Do you know when the clinical trials are going to start in 2016, and where? United States? I hope it does, because the FDA should pass this, many people in the states have this disease, and most assuringly probably in Europe.My older brother had this and so have my other siblings, well it started out like he had the disease ALS, but it wasn`t that. So I hope we could cure this bad disease from not walking correctly.
    Thank You,

  2. Editor’s Note: The planning for the 1st stages of clinical trials has not been finalised as the focus is currently on the 2 vital validation studies underway. The thinking at this point is that the early stages of clinical trials will be held in Australia. The mission of this Foundation is to have an effective, affordable treatment available to the more than 500,000 people with HSP worldwide.

  3. This is very interesting info. I and my three sons have HSP. My mother and seven of her eight brothers and sisters had the HSP. My mothers mother and her grand father had HSP. I am 72 years old and just started having walking problems three years ago. It came on quick. I cannot walk without walking canes. My sons and I would like to walk again. So good luck. And get into a hurry

  4. Harold, did your relatives have a similar age of onset?
    I have HSP , (although not yet genetic confirmation) , started when I was between 6 and 7 years old.
    Personally, I don’t understand how someone who could walk fine for the first 69 years of their life can be considered to have a genetic fault? if genes are the building instructions for the body, if they are faulty surely the fault would become apparent much sooner?
    69 years is a long time for something to be working correctly..

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