Food supplement may be key to treatment of familial dysautonomia

Dec 21, 2016

A new Tel Aviv University study finds that a popular food supplement called phosphatidylserine may be instrumental in reversing the detrimental effects of familial dysautonomia (FD), a debilitating neurodegenerative disorder that affects approximately 1 in 31 Jewish people of Eastern European, or Ashkenazi, ancestry.

The research, led jointly by Prof Gil Ast and Prof Eran Perlson of TAU's Sackler School of Medicine, generated a mouse model of FD to examine the neuron degeneration caused by FD and to observe the positive effects of the novel therapy. The study was published in PLOS Genetics.

The research team, including Shiran Naftelberg-Blonder and other TAU students, generated a mouse model of FD. The mice exhibited symptoms similar to those experienced by human patients with FD, including developmental delays, sensory abnormalities, unstable microtubules, and impairment of axonal retrograde transport of nerve growth factor.

"We found that in neurons from our FD mice, the microtubular highways were impaired by elevated levels of an enzyme called HDAC6," said Prof Ast. "This impairment removed the adhesive that connects the 'bricks' of the highway. This led to less stabilized highways and to the slower movement of cargo along it."

Once the mouse exhibiting FD symptoms was generated, the researchers administered a phosphatidylserine treatment, which lowered the level of the enzyme that removed the "glue" from the "bricks" of the microtubular highways. Phosphatidylserine contains both amino acids and fatty acids and is known to be effective in slowing down long-term memory loss.

The researchers found that the treatment with phosphatidylserine enhanced the stability of the microtubular "highways" and improved the movement of "cargo" along these pathways. "We identified the molecular pathway that leads to neurodegeneration in FD and demonstrated that phosphatidylserine has the potential to slow progression of neurodegeneration," said Prof Ast.

"Phosphatidylserine can repair the activity in neurons from the FD mouse by reducing the amount of the enzyme that removes the 'glue' from the 'bricks,'" Prof Ast continued. "This elevates the stability of the 'highways' and increases essential cargo movement along these neurological pathways."

The researchers are currently researching ways of improving the delivery of phosphatidylserine to the nervous system. Teva Pharmaceuticals contributed support for this research through the National Network of Excellence.

Source: News Release
American Friends of Tel Aviv University
December 21, 2016