Spinal muscular atrophy (SMA) is a severe neurological disease for which there is presently no cure, although current therapies can alleviate symptoms. In the search for better treatment options, scientists at DZNE and the Dresden University of Technology are now drawing attention to previously unnoticed abnormalities in embryonic development. They base their argument on studies of so-called organoids: Laboratory-grown tissue cultures that can reconstruct disease processes.
Their findings are published in the journal Cell Reports Medicine . In SMA, neurons in the spinal cord degenerate, leading to paralysis and muscle wasting. The disease usually manifests in childhood and affects an estimated 1,500 individuals in Germany.
Defects in a specific gene are considered to trigger SMA. These mutations result in a deficiency of the so-called SMN protein (Survival of Motor Neuron protein), which is critical for neurons involved in motor control. For a few years, medical treatments have been available to address protein deficiency by means of gene therapy.
Intervention can begin within a few days after birth. However, while this approach can alleviate disease symptoms, experience to date indicates that it provides no cure. A so far unknown prelude Now, scientists in Dresden, Germany, are suggesting broadening the perspective in the search for better therapies.
The current perception of SMA focuses on the disease after birth, when the basic framework of the nervous system is mostly for.