A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia

Santana, Magda M.; Gaspar, Laetitia S.; Pinto, Maria M.; Silva, Patrick; Adão, Diana; Pereira, Dina; Ribeiro, J.; Cunha, Inês Rovisco Pereira Faria da; Huebener-Schmid, Jeannette; Raposo, Mafalda; Ferreira, Ana F.; Faber, Jennifer; Kuhs, Sandra; García-Moreno, Héctor; Reetz, Kathrin; Thieme, Andreas; Infante, Jon; Warrenburg, B.P.C. van de; Giunti, Paola; Rieß, Olaf; Schöls, Ludger; Lima, Manuela; Klockgether, Thomas; Januário, Cristina; Almeida, Luís Pereira de; Krahe, Janna; Gaalen, Judith van; Gonzalez‐Robles, Cristina; Fleszar, Zofia; Pelayo‐Negro, Ana Lara; Manrique, Leire; Timmann, Dagmar; Steiner, Katharina Marie; Melo, Ana Rosa Vieira

doi:10.1111/nan.12892

Cited by 3 publications

(1 citation statement)

References 59 publications

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“…Peripheral blood was collected from each participant according to a standardized protocol implemented at all participating research centers [27]. Briefly, approximately 8.5 mL of blood was drawn into a plasma preparation tube (362799, BD Vacutainer) using a 21G butterfly needle (BG2134, MediPlus).…”

Section: Blood Collection and Processingmentioning

confidence: 99%

Small non-coding RNA content in plasma-derived extracellular vesicles distinguish ataxic SCA3 mutation carriers from pre-ataxic and control subjects

Santana,

Silva,

Pinto

et al. 2024

Preprint

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Spinocerebellar ataxia type 3 (SCA3), a neurodegenerative disorder caused by a CAG expansion in theATXN3gene, is the most common spinocerebellar ataxia subtype worldwide. Currently, there is no therapy to stop or prevent disease progression. Promising therapeutic strategies are emerging, but their translation into clinical practice requires sensitive and reliable biomarkers. Blood circulating extracellular vesicles constitute a promising source of biomarkers with potential to track alterations of the central nervous system due to their ability to cross the blood brain barrier.Here, we perform sequencing analysis of small RNAs from plasma-derived extracellular vesicles from SCA3 mutation carriers (10 pre-ataxic and 10 ataxic) and 12 control subjects to identify potential RNA biomarker candidates for this disease.Data showed that plasma-derived extracellular vesicles from ataxic SCA3 mutation carriers are enriched in mitochondrial, nuclear, and nucleolar RNA biotypes compared to pre-ataxic and control subjects. Moreover, ataxic mutation carriers could be discriminated from control and pre-ataxic subjects based on the miRNAs or piRNAs content, but not tRNA. Furthermore, we identified a subset of differentially expressed miRNAs and piRNAs that clearly differentiate ataxic mutation carriers from pre-ataxic and control subjects.These findings open new avenues for further investigation on the role of these RNAs in the pathogenesis of SCA3 and their potential as biomarkers for this disease.

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Section: Blood Collection and Processingmentioning

confidence: 99%

Small non-coding RNA content in plasma-derived extracellular vesicles distinguish ataxic SCA3 mutation carriers from pre-ataxic and control subjects

Santana,

Silva,

Pinto

et al. 2024

Preprint

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The Future of Healthcare

Shafik

2024

Artificial Intelligence and Machine Learning in Drug Design and Development

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Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3

Elter,

Sturm,

Santana

et al. 2024

J Neurol

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Introduction Knowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to the disease-causing gene, ATXN3, have been determined. We wanted to investigate the frequency and regional distribution of two intragenic single nucleotide polymorphisms (SNPs) in a large European SCA3 cohort and their relation to the clinical phenotype. Methods The genotypes of the two polymorphisms at base pair positions 987 and 1118 of the ATXN3 were determined for their co-localization on the normal and expanded allele, respectively, in 286 SCA3 mutation carriers and 117 healthy controls from 11 European sites. Results The distribution of genotypes on the expanded allele differed from those of the wildtype allele of SCA3 mutation carriers and of healthy controls, and was mainly influenced by the regional origin. In our cohort, no particular clinical phenotype was associated with any specific haplotype. Conclusions Our results confirm distinct allocations of SNPs associated to the expanded ATXN3, and accordingly the consideration of allele-specific therapies.

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A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia

Cited by 3 publications

References 59 publications

Small non-coding RNA content in plasma-derived extracellular vesicles distinguish ataxic SCA3 mutation carriers from pre-ataxic and control subjects

Small non-coding RNA content in plasma-derived extracellular vesicles distinguish ataxic SCA3 mutation carriers from pre-ataxic and control subjects

The Future of Healthcare

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3

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