Bio Spec

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Overview

Bio Spec Overview

Ignite Creation Date: 2025-12-25 @ 2:42 AM
Last Modification Date: 2025-12-25 @ 2:42 AM
Retention: SAMPLES_WITH_DNA
Description: MITO and control Participants (asymptomatic, unaffected family members, or patients with non-MITO movement disorder), the following biospecimens will be collected to form the biobank for DNA extraction, biomarker and heteroplasmy analysis:

1. Whole blood collection (60ml every 6 months ii. Plasma and serum iii. PBMCs will be extracted for transcriptomics, proteomics and possible cell line iv. development
2. Skin biopsies will be used to create fibroblast cells
3. Hair follicles
4. Urine and urinary epithelial cells every 6 months will be used for autofluorescence analysis, metabolomics, biomarker development and DNA extraction
5. Saliva/Buccal cells
6. Stool will be collected, via a home collection kit, every 6 to 12 months, for microbiome analysis.
Section: MITO and control Participants (asymptomatic, unaffected family members, or patients with non-MITO movement disorder), the following biospecimens will be collected to form the biobank for DNA extraction, biomarker and heteroplasmy analysis: 1. Whole blood collection (60ml every 6 months ii. Plasma and serum iii. PBMCs will be extracted for transcriptomics, proteomics and possible cell line iv. development 2. Skin biopsies will be used to create fibroblast cells 3. Hair follicles 4. Urine and urinary epithelial cells every 6 months will be used for autofluorescence analysis, metabolomics, biomarker development and DNA extraction 5. Saliva/Buccal cells 6. Stool will be collected, via a home collection kit, every 6 to 12 months, for microbiome analysis.