It is known that resting muscle mass is an important contributor to muscle strength and yet in a majority of patients with neural tube defects surplus muscle mass leads to a condition referred to as neurofibromatosis type 1 (NFI1) in which muscle strength becomes progressively weaker and eventually paralyses the affected area of the brain.

But sleep and circadian rhythms play an important role in regulating muscle mass and as the new research on mice reveals NFI1 prematurely increased in some animals triggering hyperactivation of resting-muscle signaling leading to a dramatic increase in peripheral and intrinsic signaling and ultimately making the muscles more vulnerable to external stress.

The results of the new study reported in a study published in Cell Reports suggest that targeting peripheral systems signifies a future therapeutic approach with a promise to make the life-threatening condition less severe.

Our study identified a critical new feature defining the pathological state of the peripheral nervous system and is a step toward developing therapeutic strategies on which to concentrate our efforts now driven by our work on NFI1.

Xinyan Cai PhD assistant professor of molecular and Cellular Biology the studys senior and corresponding author the Theodore T. Davis Professor of Biology in the Department of Biology and senior associate dean in the College of Life Sciences.

Cais lab has long displayed that NFI1 is present at significantly reduced levels in F2 animals in which HPA-axis networks are present but at dramatically increased levels in non-HPA-fed rodents.