Analysis of Genetic and MRI Changes, Blood Markers, and Risk Factors in a Twin Pair Discordant of Progressive Supranuclear Palsy

Author:

Persely Aliz12,Beszedics Beatrix1,Paloczi Krisztina3,Piroska Marton1ORCID,Alijanpourotaghsara Amirreza1ORCID,Strelnikov David1ORCID,Vessal Arsalan1,Szabo Helga14,Hernyes Anita1ORCID,Zoldi Luca1,Jokkel Zsofia1,Fekete Andrea1,Juhasz Janos56,Makra Nora5,Szabo Dora5,Buzas Edit3ORCID,Tarnoki Adam Domonkos1ORCID,Tarnoki David Laszlo1ORCID

Affiliation:

1. Medical Imaging Centre, Semmelweis University, 1082 Budapest, Hungary

2. Neurology Department, Medical Centre Hungarian Defence Forces, 1134 Budapest, Hungary

3. Department of Genetics, Cell- and Immunobiology, Semmelweis University, 1085 Budapest, Hungary

4. Central Radiological Diagnostic Department, Medical Centre Hungarian Defence Forces, 1134 Budapest, Hungary

5. Institute of Medical Microbiology, Semmelweis University, 1085 Budapest, Hungary

6. Faculty of Information Technology and Bionics, Pazmany Peter Catholic University, 1085 Budapest, Hungary

Abstract

Background and Objectives: Progressive supranuclear palsy (PSP) is a neurodegenerative disease, a tauopathy, which results in a wide clinical spectrum of neurological symptoms. The diagnosis is mostly based on clinical signs and neuroimaging; however, possible biomarkers for screening have been under investigation, and the role of the gut microbiome is unknown. The aim of our study was to identify potential blood biomarkers and observe variations in the gut microbiome within a PSP discordant monozygotic twin pair. Materials and Methods: Anthropometric measurements, neuropsychological tests, and the neurological state were evaluated. Blood was collected for metabolic profiling and for the detection of neurodegenerative and vascular biomarkers. Both the gut microbiome and brain MRI results were thoroughly examined. Results: We found a relevant difference between alpha-synuclein levels and moderate difference in the levels of MMP-2, MB, Apo-A1, Apo-CIII, and Apo-H. With respect to the ratios, a small difference was observed for ApoA1/SAA and ApoB/ApoA1. Using a microbiome analysis, we also discovered a relative dysbiosis, and the MRI results revealed midbrain and frontoparietal cortical atrophy along with a reduction in overall brain volumes and an increase in white matter lesions in the affected twin. Conclusions: We observed significant differences between the unaffected and affected twins in some risk factors and blood biomarkers, along with disparities in the gut microbiome. Additionally, we detected abnormalities in brain MRI results and alterations in cognitive functions.

Publisher

MDPI AG

Subject

General Medicine

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