SPG10 HSP gene now linked with Motor Neurone Disease

Previously linked to Charcot Marie Tooth


The gene KIF5A, mutations in which cause SPG10 HSP, is known as a mutational hotspot, and has now been associated with three conditions – Hereditary Spastic Paraplegia, Charcot-Marie-Tooth type 2 (CMT2) and Motor Neurone Disease (also known as amyotrophic lateral sclerosis).


© Journal of Cell Science


NEW YORK (GenomeWeb) – Researchers have linked loss-of-function mutations in the KIF5A gene to amyotrophic lateral sclerosis.

ALS, also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects about 14,500 people in the US, according to the Centers for Disease Control and Prevention.

An international team of researchers led by John Lander of the University of Massachusetts Medical School and Bryan Traynor at the National Institute on Aging conducted a genome-wide association study of nearly 21,000 cases and 60,000 controls while simultaneously performing a rare variant burden analysis that compared more than 1,000 familial ALS cases and 19,000 controls. As they reported today in the journal Neuron, the researchers identified a novel gene, KIF5A, that is associated with ALS. KIF5A encodes a protein that regulates the flow of materials along nerve axons.

“Axons extend from the brain to the bottom of the spine, forming some of the longest single cellular pathways in the body,” Traynor said in a statement. “KIF5A helps to move key proteins and organelles — specialized parts of cells — up and down that axonal transport system, controlling the engines for the nervous system’s long-range cargo trucks. This mutation disrupts that system, causing the symptoms we see with ALS.”

Mutations in KIF5A have previously been found to cause two other neurodegenerative diseases: hereditary spastic paraplegia type 10 (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). The researchers noted that the mutations in KIF5A they uncovered in ALS affect a different region of the KIF5A protein than the mutations linked to SPG10 and CMT2. Gene mutations affecting SOD1 and C9orf72, among others, have also been linked to ALS. Read more …


SOURCE: GenomeWeb https://www.genomeweb.com/microarrays-multiplexing/loss-function-kif5a-mutations-linked-amyotrophic-lateral-sclerosis#.WwbMdVMvyMI Copyright © 2018 GenomeWeb LLC.


Loss-of-Function KIF5A Mutations Linked to Amyotrophic Lateral Sclerosis


Mar 21, 2018 | staff reporter



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