Mutations in the KIF1A gene cause KIF1A Associated Neurological Disorder (KAND). To understand the disease, we have to learn about the gene that causes it.
KIF1A Gene Function
The KIF1A gene gives important instruction for the production of the KIF1A protein, which is vital for the health of brain cells and nerve fibers. The KIF1A protein is a motor protein, meaning it helps control the transport of nutrients and other molecules within nerve cells along nerve fibers. Recent research has shown that KIF1A is extremely effective at this cargo transport.
To learn more about motor proteins, how they work and what they do, watch this video from the Hoogenraad research lab at the University of Utrecht in the Netherlands.
If KIF1A cannot function properly because disease-causing mutations are disrupting the transport of it’s cargo, brain function is damaged and the body shuts down. This results in severe medical challenges.
KIF1A Associated Neurological Disorder (KAND)
Mutations in the KIF1A gene cause a vital motor protein to break down. This is known as KIF1A Associated Neurological Disorder (KAND). There are over 80 different mutations identified on the KIF1A gene causing a heterogeneous disease with multiple symptoms associated with it.
KAND is caused by “toxic-gain-of-function” mutations. In this type of defect, the gene takes on a new function that is harmful to the human body—the protein produced may interfere with cell functions, or may no longer be controllable by its normal regulatory partners, for instance. Many degenerative diseases of the brain are due to this type of mutation, including Huntington disease.
Because the disorder is caused by a mutation in the KIF1A gene, the only way to diagnose KAND is through genetic testing, such as Whole Exome or Whole Genome Sequencing, or multi-gene panel testing.