Karolinska Institutet’s Cell Model of the Brain Provides Vital New Knowledge of Lissencephaly

Recent research led by Swedish neuroscience docent Anna Falk at the Karolinska Institutet has uncovered new insight into the behavior of the cells of Lissencephaly patients.
By reprogramming skin cells into nerve cells, researchers can compare healthy cells to those afflicted by the rare congenital disease, unlocking a new way to fine-tune diagnosis and treatment methods.

In 2012, the discovery that certain developed cells can be deconstructed and reassigned as nascent cells capable of functioning in other roles across the bod won the Nobel Prize in Physiology or Medicine. In Falk’s current study, skin cells were taken from lissencephaly patients, converted into iPS cells, and then cultivated into neuronal stem cells that are perfect replicas of those in the patients’ brains. By comparing the cell cultivation dishes of healthy, control cells to those of the Lissencephaly patients’ Falk’s team was able to discover that the diseased cells possessed a much slower rate of growth, less projection, and lower mobility.

The promising discovery was incidentally found during the Karolinska Institutet’s construction of a cell model of the brain, a project primarily intended for the study of other congenital diseases such as Autism and Down’s Syndrome. Falk’s research team collaborated with Karolinska University Hospital, SciLifeLab, Uppsala University, and the United States’ Salk Institute for Biological Studies to reach their findings.

Lissencephaly, formally known as lissencephaly type I, is a cerebral malformation that can form alone or in tandem with certain underlying disorders such as Norman-Roberts Syndrome or Miller-Dieker Syndrome. The disease is usually diagnosed in infants due to the incomplete development or total absence of ridges in the cerebral cortex, causing the brain to take on a smooth shape. Patients may experience seizures, feeding difficulties, diminished bone mass, loss of motor function, intellectual disabilities, or irregular growth from birth.


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