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PALS Mike

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U of T researcher tackles ALS

by JENNIFER WELLS

There comes a chilling moment, staring as we are at a microscopic cross section of a human spinal cord, when Janice Robertson steps away from her telescope and offers a layperson an up-close image of what she has just been studying. The revealed picture is nothing so much as a sea of faint brown, absent any clear shapes within it. A wash of discolouration, as if the slide were an error, a lab technician's mistake.

How can it be that a layperson's eye sees nothing here?

The untutored observer has, in fact, seen everything there is to see. "Basically, there's nothing left," says Robertson of the cross-section. "The neurons have gone and there's no sign that they ever existed."

The neurons have gone. As Dr. Robertson says this, it is as if all the air has been swept right out of the room. As if one cannot breathe.

She speaks of neuronal death, of the demise of the body's information messengers. As the neurons die, the body's motor structures fail to respond to the brain's impulses. The muscles start to atrophy, resulting in progressive, relentless paralysis. To the moment when the patient is trapped, cognitively intact, in a frozen form. To the ultimate moment when the patient dies.

The cruel progression under discussion is amyotrophic lateral sclerosis, or ALS. We know it as Lou Gehrig's disease, and most of us still retain the powerful memory of a defiant Sue Rodriguez and her fight for the right to die. It's a fair bet that few are aware that at the University of Toronto, a research effort focused exclusively on ALS is just finding its bearings.

There are those in this universe whose passions are more focused than others. Janice Robertson — Edinburgh-born; PhD University of London — is one such traveller. A student for whom an interest in neuroscience became a more focused interest in neuro-degeneration, which in turn led to Alzheimer's research before branching into ALS, an area occupied by relatively few scientists.

At the University of Toronto's Centre for Research in Neurodegenerative Disease, Robertson, 41, has established an ALS lab, which is now finding its place alongside the centre's renowned work in Alzheimer's and Parkinson's. Brand new lab equipment has arrived. The call has gone out for research assistants. As you would expect, funding is an issue.

The sky today is a sunny blue. And Robertson herself, in her jeans, her lavender shirt, her hair streaked and Blundstones on her feet, is a bright, shining presence despite the grim statistics she goes on to parse. The incidence of ALS in Canada currently runs at about 2 per 100,000. To place that among the unseemly calculus in which the incidence of one disease is weighed against another, ALS shows similar numbers to multiple sclerosis.

But there the statistical comparison ends. At any one time the number of MS sufferers is approximately 50,000. Those who suffer from ALS: 2,000 to 3,000. The reasons for the discrepancy: MS generally affects sufferers at a much younger age. And the progression of ALS is horrendously fast: 90 per cent of patients die within three to five years of diagnosis.

Comparisons are odious and Robertson steps gingerly around this point. "No disease is worse than the other. They're horrible. They're all horrible ... Thinking about trying to raise awareness for this disease, it's like trying to trade one disease off against another, which isn't fair," she says. "I just feel, you know, when you consider the numbers, the incidence is the same. I feel they're forgotten. Do you know what I mean?"

She picks up a recent copy of, of all things, People magazine. A story within it explores the cruel irony of neurologist Richard Olney, founder of the University of California (San Francisco) ALS Center. In the summer of 2003, the story recounts, Olney began having some difficulties walking. He blamed a herniated disc. Cont'd...
 

PALS Mike

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In November of that year he was diagnosed with ALS. Since last summer he has had to use a wheelchair. He can now barely speak and likely has less than a year to live.

Olney was quoted in the story. "I think a cure is within my generation's grasp," he said. "I'm disappointed I won't see that day."

Janice Robertson's focus lies in understanding the disease mechanism causing ALS. Here it is easy to get lost. Neurodegenerative diseases — Huntington's, Parkinson's — are all typified by protein aggregates inside the neurons. Alzheimer's has two kinds of aggregates — called plaques and tangles — one inside and one outside the neuron.

"With ALS you get aggregates of peripherin inside the neurons," says Robertson. "When you look at neurodegeneration the overall problem is the same. You get a protein aggregate inside a neuron. How does that happen? Why is it that set of neurons and not that set of neurons? Why is it those proteins and not those proteins?"

I won't pretend to understand all this. Nor the frustration of the scientific community that to date only one mutant gene has been identified as a cause of ALS, and that the mutation in that gene — super oxide dismutase — accounts for just two to three per cent of all ALS cases. This particular gene continues to carry out its normal function while gaining a toxic function, a disease enabler.

Robertson leads the way to the mouse house. Sterile gowns and foot and hand coverings are donned. Many, many mice sit in plastic cages on ceiling-high steel dollies. Robertson has her own mouse group, including transgenic mice, some of which are modelling ALS by over-expressing that mutant gene we just talked about.

Previously, Robertson had shown me mice foot patterning, where the ink-stained pads of the mice feet show a progression from making the clear imprint of a mouse foot, to a dragging pattern where the mice have started to haul their legs behind them, streaks of red and blue. Now she retrieves a mouse from its cage. "We look first for back leg weakness," she says, holding the mouse by its tail. If she could, Robertson would be running more mice lines, but she has to keep a lid on costs. "Transgenic mouse costs are exorbitant," she says, costing out at almost a dollar a day per cage, which translates into roughly $3,000 a month.

It seems like a pittance, given the epic scale of the research battle. Robertson is all eagerness and enthusiasm. She's on a mission to build a world-renowned lab, of which we are just starting to take notice. "We're just starting but we're determined," she says. "We're going to do something here."
 
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