(PhysOrg.com) -- Lou Gehrig's disease, or amyotrophic lateral
sclerosis (ALS), and frontotemporal lobar degeneration (FTLD)
are characterized by protein clumps in brain and spinal-cord
cells that include an RNA-binding protein called TDP-43. This
protein is the major building block of the lesions formed by
these clumps. In a study published in the Journal of Clinical
Investigation, a team led by Virginia M.-Y. Lee, PhD, director
of Penns Center for Neurodegenerative Disease Research,
describes the first direct evidence of how mutated TDP-43 can
cause neurons to die. Although normally found in the nucleus
where it regulates gene expression, TDP-43 was first discovered
in 2006 to be the major disease protein in ALS and FTLD by the
Penn team led by Lee and John Q. Trojanowski, MD, PhD, director
of the Institute on Aging at Penn. This discovery has
transformed research on ALS and FTLD by linking them to the same
disease protein. The discovery of TDP-43 as the pathological
link between mechanisms of nervous system