Induced Pluripotent Stem Cells Help Researchers Study Spinal Muscular Atrophy

Normally inaccessible diseased cell types can be recreated in vitro and used to study drug efficacy.

Spinal muscular atrophy (SMA) is among the most common fatal neurodegenerative diseases of childhood. The genetic defect is known: underproduction of a protein made by the survival motor neuron 1 (SMN) gene. However, studying the specific type of human cell that is affected by SMA — the motor neuron — has been difficult.

A team from the University of Wisconsin collected fibroblasts from a child with SMA; these fibroblasts were transformed into induced pluripotent stem cells (iPS cells; JW Dec 28 2007). These iPS cells were then induced chemically to become motor neurons, which had the morphologic and biochemical defects seen in SMA. Two drugs that induce production of the missing SMN protein were active in the neurons produced from the child…

Reviewing Author

Anthony L. Komaroff, MD

Disclosures

Consultant/Advisory BoardSerImmune Inc.; DxTerity

Grant / Research SupportNIH (1U54NS105542-01)

Editorial BoardsHarvard Health Letter; UpToDate

Anthony L. Komaroff, MD

Disclosures

Consultant/Advisory BoardSerImmune Inc.; DxTerity

Grant / Research SupportNIH (1U54NS105542-01)

Editorial BoardsHarvard Health Letter; UpToDate