Amyotrophic Lateral Sclerosis (Nicolas, 2019)

STUDY TITLE: Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

SUMMARY: Discovery of genetic variants in the KIF5A gene that are associated with amyotrophic lateral sclerosis (ALS).

OVERVIEW:  Amyotrophic lateral sclerosis, or ALS, is a progressive degeneration of nerve cells that control muscle movements which results in worsening weakness. ALS patients lose the ability to walk, use their hands, speak, swallow, and eventually breathe. This study analyzed the genomes of over 20,000 ALS patients of European ancestry and discovered a novel ALS-associated gene. The KIF5A gene encodes a protein that functions as a motor that helps transport cargo within cells. In nerve cells, motor proteins like KIF5A play an important role in transport along nerve fibers. Nerve cells that control movements have particularly long nerve fibers that might be particularly susceptible to disruption of cellular transport.

DID YOU KNOW? Smoking and exposure to environmental toxins (e.g. lead) might trigger ALS. Early signs of ALS include chronic muscle cramps, twitches, weakness in the hands and feet, and a loss of balance. [SOURCE]

SAMPLE RESULTS: Learn more about the Nebula Research Library.

ALS sample results

ALS-ASSOCIATED VARIANTS: rs3849943, rs12973192, rs75087725, rs142321490, rs113247976, rs116900480, rs74654358, rs118082508, rs117027576, rs10463311

Motor proteins (Video)

WEEKLY UPDATE: December 26, 2019

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