According to an article published by R&D, scientists at Harvard have identified a new genetic clue that they suspect might be linked to the development of amyotrophic lateral sclerosis (ALS).
Amyotrophic lateral sclerosis – ALS, MND (motor neurone disease), Lou Gehrig’s Disease. It’s more or less all the same thing, just by different names.
Here in the States, doctors prefer “ALS” to describe the condition where patients’ motor neurons progressively degenerate over time. Slowly, this degeneration will create problems controlling voluntary movement that eventually culminate in total paralysis.
Estimates vary but generally agree that about 15,000 to 20,000 Americans are living with ALS at any one time. Therapies exist to make living with the condition more comfortable, but there is no known cure – and ALS is still considered to be a terminal diagnosis some 77 years after Lou Gehrig’s passing.
Suspected Gene May Be New Biomarker
Before researchers can begin to formulate a new treatment, or even a cure, they need a quantifiable way of identifying ALS in patients.
One protein has already been the subject of such discussion for some time now. TDP-43 is a protein typically found in the nuclei of motor neurons. About a decade ago, researchers studying the postmortem motor neurons of ALS patients found that TDP-43 had essentially “leaked” from neuron nuclei into the surrounding cytoplasm.
For years it was suspected that TDP-43 was somehow connected to the development of ALS, but research definitively linking the two proved elusive. Harvard’s new research represents a hopeful step in that direction.
The research involved the close study of stem cell-derived motor neurons. Researchers would manipulate the levels of TDP-43 present in a given neuron and examine how genes were expressed in the cell, comparing that against other cells with varying concentrations of TDP-43.
The scientists found that a gene called Stathmin 2 (STMN2) was expressed differently in close step with changes in TDP-43. STMN2 is a gene that plays an important role in regulating neuron growth and repair. They sought to confirm their suspicions, and through a series of experiments managed to confirm that restoring the expression of STMN2 is vital in rescuing nerve growth.
Without TDP-43 present in the neurons, STMN2’s instructions for neuron growth are mistranslated into nonsense.
Scientists hope that Harvard’s research will pave the way for future inquiry into the nature of STMN2 in ALS – including whether manipulating expression of the gene could one day be a viable treatment for the illness.
Identifying the causes of a disease is a complex but essential part of creating a defense against it. How might this breakthrough help researchers looking to treat other diseases with no cure? Share your thoughts with Patient Worthy!