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Related Experiment Video

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Yeast As a Chassis for Developing Functional Assays to Study Human P53

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HFE p.H63D polymorphism does not influence ALS phenotype and survival.

Adriano Chiò¹, Gabriele Mora², Mario Sabatelli³

¹ALS Center, "Rita Levi Montalcini" Department of Neuroscience, Neurology II, University of Torino, Torino, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza, Torino, Italy.

Neurobiology of Aging

|July 16, 2015

Summary

The HFE p.His63Asp polymorphism does not significantly impact amyotrophic lateral sclerosis (ALS) progression in Italian patients. However, a subset of SOD1-mutation patients showed longer survival with specific HFE genotypes.

Keywords:

Amyotrophic lateral sclerosis HFE polymorphisms SOD1 phenotype survival

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Area of Science:

Genetics
Neurology
Molecular Biology

Background:

The HFE p.His63Asp polymorphism has been linked to accelerated disease progression in amyotrophic lateral sclerosis (ALS) mouse models and patients.
Investigating genetic modifiers is crucial for understanding ALS heterogeneity.

Purpose of the Study:

To evaluate the impact of the HFE p.His63Asp polymorphism on the clinical phenotype of a large cohort of Italian ALS patients.
To determine if this polymorphism influences disease onset, progression, or survival in ALS.

Main Methods:

Genotyping of 1351 Italian ALS patients for the HFE p.His63Asp polymorphism (CC, GC, GG).
Assessment for mutations in C9ORF72, TARDBP, SOD1, and FUS genes.
Clinical data analysis including age at onset, site of onset, and survival rates.

Main Results:

No significant differences in age at onset, site of onset, or overall survival were observed across HFE p.His63Asp genotypes in the entire ALS cohort.
A subgroup analysis revealed significantly longer survival in SOD1-mutation patients with GC or GG HFE genotypes compared to CC.
Contrary to mouse model findings, the HFE p.His63Asp polymorphism did not generally affect the ALS phenotype in this patient cohort.

Conclusions:

The HFE p.His63Asp polymorphism does not appear to be a significant modifier of the overall ALS phenotype in the studied Italian population.
A potential genotype-specific effect on survival was noted in SOD1-ALS patients, warranting further investigation.