HFE Gene Mutation May Be Culprit in Peripheral Nerve Damage to Friedrich’s Ataxia Patients

HFE Gene Mutation May Be Culprit in Peripheral Nerve Damage to Friedrich’s Ataxia Patients

An Indian population study has shown that a specific mutation in a gene involved in iron regulation, the HFE gene, is seen frequently in patients with Friedreich’s ataxia (FA), and it could be a culprit in damaging the peripheral nerves in FA.

The study, “Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients,” was published in the journal Parkinsonism and Related Disorders.

FA is a rare genetic disease characterized by progressive damage to the nervous system. Some patients with FA can suffer deregulation of iron metabolism, showing higher levels of iron, it is not clear how much impact that iron imbalance has in FA progression and development.

Mutations in the HFE gene can result in an iron overload disorder known as hereditary hemochromatosis (HH). It already was reported that two HFE gene mutations, identified as p.C282Y and p.H63D, can modulate the response of some neurodegenerative disorders.

A group of researchers intended to correlate the presence of those two mutations of the HFE gene with the FA symptoms and progression. The researchers performed a case-control study, which included 100 clinically and genetically confirmed FA cases and 102 controls in an Indian population group.

The HFE gene of each of the participants was analyzed to detect the presence of the mutations p.C282Y and p.H63D. The results were examined according to demographic characteristics, clinical features and Friedreich’s Ataxia Rating Scale (FARS).

The authors of the study observed that the p.C282Y mutation was present only in 1.12% of the FA patients, and absent in the control group. Due to the low frequency of this mutation in the studied population, it was not possible to make any further correlations with the FA characteristics.

The p.H63D mutation was more frequent, being found in 21% of the FA patients, and in 12% of the control subjects. When analyzing the presence of this mutation with the disease characteristic, the authors failed to find any influence of p.H63D mutation on the age of onset or disease severity of FA.

Upon comparing FA patients carrying the p.H63D mutation with patients who did not have it, the authors could not detect any differences in the prevalence of heart disease and iron overload in the brain. However, the authors reported that patients carrying the p.H63D mutation had a higher frequency of damage of the peripheral nerves.

Although the authors could not correlate any of the HFE mutations with FA severity or progression, they highlighted the importance of further studies with a larger and more diverse ethnic group to better address the role of HFE gene mutation as a possible cause for the diverse FA symptoms and progression.

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