A research paper by Penn scientists has brought science one step closer to yielding a cure to a devastating disease.
In May, an international team of researchers, including five working out of Penn's School of Medicine, released a report that suggests that two forms of amyotrophic lateral sclerosis, commonly known as Lou Gehrig's disease, are actually two separate disorders that require separate treatment regimens.
The findings could be revolutionary for the treatment of ALS. Doctors had, for over a decade, prescribed treatments for and focused research on the first form of the disease, termed the familial form, which may have represented only about 1 to 2 percent of all cases.
If the research holds true, new medicines could be developed to cure the second form, called the sporadic form.
"This is the first well-established marker of the disease," said Sharon Hesterlee, vice president of translational research for the Muscular Dystrophy Association. "To be able to find this protein in humans is very helpful."
Still, as labs across the country scramble to try to corroborate the report's findings, both critics and the researchers involved agree that more work must be done before concluding that years of research was for naught.
"I don't think we are at a point where we can put them in very clear boxes," said Lucie Bruijn, the science director and vice president for the ALS Association and one of the original developers of the long-established research model.
She added that the suggestion of separate disorders is not new.
"I think we as a community think that there is a spectrum of disorder," Bruijn said. "Clearly the disease, even amongst the familial and sporadic, is variable."
Hesterlee agreed, saying, "We still don't know if the protein causes the disease or is just a bystander."
The researchers made their discovery of the protein present in the sporadic form while studying frontal temporal dementia, said Penn medical professor John Trojanowski, one of the senior authors on the paper.
During that research, he and the other scientists determined that the protein was present in patients with all forms of the disease except for those who had genetic mutations linked to the familial form.
The findings meant that the two forms could actually be separate disorders with separate treatments.
"Things that look the same are not always the same thing," Trojanowski said.
And even though there will not be immediate therapeutic results from the report, the discovery of the protein present in the sporadic form could still prove to be groundbreaking.
"Finding it in the pathology does not mean that it is etiological, but it doesn't rule it out." said Teepu Siddique, a professor of neurology at Northwestern University and an author of the paper.
