A skin biopsy is intended to offer a less invasive alternative to current cerebrospinal fluid analysis technique. Credit: Case Western Reserve University.

A team of researchers in the US has secured funding from the National Institutes of Health (NIH) to support the development of a skin testing technique to detect Parkinson’s disease (PD).

Led by researchers from the Case Western Reserve University School of Medicine, the team will create an approach to identify ‘misfolded’ alpha-synuclein (α-Syn) proteins in the skin.

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α-Syn proteins are responsible for nerve cell dysfunction and death in Parkinson’s.

A skin biopsy will offer a less invasive alternative to current cerebrospinal fluid analysis technique, which also searches for misfolded α-Syn proteins.

Researchers noted that existing brain imaging and some blood tests used to detect PD are not accurate or sensitive enough.

Moreover, the skin testing for α-Syn is expected to allow early diagnosis of the disease, as the proteins start accumulating around ten to 20 years before the display of symptoms.

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Case Western Reserve School of Medicine National Prion Disease Pathology Surveillance Center associate director Wenquan Zou said: “Ascertaining the presence, volume and dispersion of the misfolded α-Syn proteins in more accessible specimens such as the skin can also be used for monitoring the progression of the disease and evaluating the effectiveness of new treatments.”

The movement challenges in Parkinson’s patients are associated with the loss of dopamine-producing brain cells. However, the α-Syn proteins could also result in immobility and dementia as they spread from cell to cell throughout the brain.

A preliminary study found that real-time quaking-induced conversion (RT-QuIC) test can identify misfolded α-Syn in autopsied skin tissues of patients with high specificity and sensitivity.

Further testing showed that protein misfolding cyclic amplification (PMCA) test also detects skin α-Syn.

Zou added: “We hypothesise that RT-QuIC and PMCA are highly sensitive and robust platforms to establish skin α-Syn as a biomarker (indicator) for post-mortem and pre-mortem diagnoses of PD and the method might be extended to other neurodegenerative diseases as well.”