Uric Acid Levels May Be Biomarker for Friedreich’s Ataxia, Study Suggests – Friedreich’s Ataxia News

Serum uric acid (UA) levels are increased in Friedreich’s ataxia patients and may be a disease biomarker as well as a new therapeutic target, Italian researchers suggests.

Their study, “Serum uric acid in Friedreich Ataxia,” appeared in the journal Clinical Biochemistry.

Friedreich’s ataxia (FA) is a rare inherited disease that affects about one in 50,000 people in the U.S. FA typically begins in childhood. Patients with FA first experience difficulty in walking, which usually leads to needing a wheelchair within 10 years of symptoms onset, and many are completely incapacitated by middle age.

The disorder is caused by abnormal repeats of the GAA sequence of nucleotides (the building blocks of DNA) in the FXN gene. Mutations in FXN lead to reduced production of frataxin, a critical protein for the activity of mitochondria – which provide energy for cells – in the nervous system.

Frataxin regulates iron metabolism, redox homeostasis (the oxidative/nucleophilic balance maintained by redox signaling enzymes), and mitochondrial energy production. As a result, FA patients exhibit greater sensitivity to oxidative damage.

Serum, or blood, uric acid (UA) has antioxidant effects. Its levels are reduced in several neurodegenerative disorders, such as Parkinson’s, Alzheimer’s, frontotemporal dementia, and progressive supranuclear palsy. Blood UA levels reflect clinical features and constitute a biomarker in Parkinson’s.

But there have been no studies exploring serum uric acid levels in Friedreich’s ataxia, researchers said.

The lack of biomarkers predicting disease severity and progression limits clinical advancements and the correct assessment of disease-modifying treatments in ongoing trials.

The researchers compared serum UA levels in 19 Friedreich’s ataxia patients and 26 healthy people to evaluate correlations of clinical parameters and UA levels, as well as its potential as an FA disease biomarker.

Results showed that patients with FA had higher uric acid levels than healthy people, regardless of age, gender, and body mass index. This finding contradicts studies in other neurodegenerative disorders.

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