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A clinical discovery report published in Nature-Medical this week, Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis, found that children with severe early-onset amyotrophic lateral sclerosis (ALS) have a rare type of SPTLC1 gene Mutations, this gene encodes a key metabolic molecule responsible for the production of a class of lipids called sphingolipids.
This report reveals a single disease-causing gene for early-onset ALS and a new metabolic-related molecular pathway that may cause neurodegeneration in other types of the disease.
ALS is a progressive neurodegenerative disease that often leads to death within 3-5 years after onset.
Most cases are sporadic.
With clinical studies linking single-gene mutations directly to the disease, people have gained important insights into the key drivers of ALS.
Carsten Bönnemann of the Uniformed Service University of Health Sciences in Bethesda, Maryland, USA, and colleagues sequenced the genomes of 9 patients from 7 families with severe early-onset ALS.
The authors found a set of rare mutations in a single gene (SPTLC1), which encodes a component of an enzyme involved in lipid metabolism.
Experiments have found that these newly discovered disease-causing mutations in ALS can lead to uncontrolled production of sphingomyelin and accumulation in human motor neurons-it is this type of neuron that is particularly degraded in this disease.
This clinical study not only describes a set of rare single-gene mutations behind an aggressive early-onset ALS, but also shows that direct metabolic disorders are a pathogenic factor in the progression of the disease.
SPTLC1 variants in children with ALS.
Source: Bönnemann et al.
©NatureNat Med | doi: 10.
1038/s41591-021-01346-1
This report reveals a single disease-causing gene for early-onset ALS and a new metabolic-related molecular pathway that may cause neurodegeneration in other types of the disease.
ALS is a progressive neurodegenerative disease that often leads to death within 3-5 years after onset.
Most cases are sporadic.
With clinical studies linking single-gene mutations directly to the disease, people have gained important insights into the key drivers of ALS.
Carsten Bönnemann of the Uniformed Service University of Health Sciences in Bethesda, Maryland, USA, and colleagues sequenced the genomes of 9 patients from 7 families with severe early-onset ALS.
The authors found a set of rare mutations in a single gene (SPTLC1), which encodes a component of an enzyme involved in lipid metabolism.
Experiments have found that these newly discovered disease-causing mutations in ALS can lead to uncontrolled production of sphingomyelin and accumulation in human motor neurons-it is this type of neuron that is particularly degraded in this disease.
This clinical study not only describes a set of rare single-gene mutations behind an aggressive early-onset ALS, but also shows that direct metabolic disorders are a pathogenic factor in the progression of the disease.
SPTLC1 variants in children with ALS.
Source: Bönnemann et al.
©NatureNat Med | doi: 10.
1038/s41591-021-01346-1
