CHICAGO – Researchers say they have found a common cause behind the mysterious and deadly affliction of amyotrophic lateral sclerosis, better known as Lou Gehrig’s disease, that could lead to an effective treatment.
Dr. Teepu Siddique, a neuroscientist with Northwestern University’s Feinberg School of Medicine whose pioneering work on ALS over more than 25 years fueled the research team’s work, said the key to the breakthrough is the discovery of an underlying disease process for all types of ALS.
The discovery could also help in developing treatments for other, more common neurodegenerative diseases such as Alzheimer’s, dementia and Parkinson’s, Siddique said.
The Northwestern team identified the breakdown of cellular recycling systems in the neurons of the spinal cord and brain of ALS patients that results in the nervous system slowly losing its ability to carry brain signals to the body’s muscular system.
Without those signals, patients are gradually deprived of the ability to move, talk, swallow and breathe.
The announcement of the breakthrough appears in today’s issue of the research journal NatureAmelie Gubitz, a research program director at the National Institute of Neurological Disorders and Stroke, said the Northwestern research is a big step forward in efforts worldwide to conquer ALS.
“ALS is a complicated problem, and Dr. Siddique’s research adds a big piece to the puzzle that gives us important new insights.”
A variety of proteins are present and perform different functions within cells, and Deng and Chen led research that discovered a key protein, ubiquilin2, in the ALS mystery.
Ubiquilin2 in spinal and brain system cells is supposed to repair or dispose of other proteins as they become damaged. The researchers discovered a breakdown of this function in ALS patients.
When ubiquilin2 is unable to remove or repair damaged proteins, the damaged proteins begin to pile up in the cells, eventually blocking normal transmission of brain signals in the spinal cord and brain, leading to paralysis.
There are three forms of ALS: “familial,” which is hereditary and passed through genes; non-hereditary, which is called “sporadic”; and ALS that targets the brain, called “ALS/dementia”.
Siddique was part of a study that made a major breakthrough in ALS in the early 1990s, discovering the “familial” gene that causes the disease within some families. That breakthrough came after he began an ongoing study 25 years ago of an East Coast family that has lost more than 20 members to ALS.
Joanne Saltzman, a 72-year-old member of that family, recalled last week how she first learned of ALS when she was a small girl and her father was dying of the disease. Her grandfather died of it, too, as did four of her father’s seven brothers.
Subsequently, one of Saltzman’s sisters and many of her cousins died from ALS. It killed her 51-year-old son last October, she said in a phone interview, and in February her 52-year-old niece died of it.