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Blood m.3243A>G levels in a cohort of mitochondrial disease patients

dataset
posted on 05.08.2022, 09:34 authored by Sarah PickettSarah Pickett, Yi Shiau NgYi Shiau Ng, Ian WilsonIan Wilson, Robert Taylor, Robert Mcfarland, Doug Turnbull, Grainne Gorman, Charlotte Alston

Both files contained in this dataset contain measurements of the level of the pathogenic mtDNA variant m.3243A>G within blood. These are raw data values, not corrected for age. 


1. longitudinal_3243_blood_data.csv

This file contains blood m.3243A>G level measurements originally published in Fig. 2, Grady, Pickett et al. 2018 (doi: 10.15252/emmm.201708262).


Data are from 96 individuals who were recruited into the Mitochondrial Disease Patient Cohort UK and had two or more measurements of m.3243A>G blood level taken between 2000 and 2017. m.3243A>G levels were determined using a clinically validated pyrosequencing method, as described in de Laat et al. 2016 (doi: 10.1016/j.bbacli.2016.04.007). The median time between first and last measurement was 2.5 years (IQR = 4.35, range = 0.01 – 15.20), the median age at first measurement was 36.25 years (IQR = 20.58, range = 15.60 – 72.50) and at last measurement was 40.25 years (IQR = 21.00, range = 19.80 – 78.80).   

Variables are as follows:

ID: Anonymised P number

age: Age at first m.3243A>G measurement

age2: Age at last m.3243A>G measurement

het: First m.3243A>G measurement; this is uncorrected for age and is expressed as a %.

het2: Last m.3243A>G measurement; this is uncorrected for age and is expressed as a %.


2. mother_child_3243_data.csv

This file contains blood m.3243A>G level measurements originally published in PIckett, Blain et al. 2019 (doi: 10.1056/NEJMc1808565).

Data are from 245 mother-child pairs from 141 unique mothers.

Variables are as follows:

mother_id = anonymised unique ID for each mother

b_mother = Mother's blood m.3243A>G measurement; this is uncorrected for age and is expressed as a %.

b_child = Child's blood m.3243A>G measurement; this is uncorrected for age and is expressed as a %.

age_mother = age at which mother's m.3243A>G measurement was taken

age_child = age at which child's m.3243A>G measurement was taken

proband_child = 1 if the child is a proband, 0 if not

proband_mother = 1 if the mother is a proband, 0 if not


Funding

Wellcome: 204709/Z/16/Z

Wellcome Centre for Mitochondrial Research: 203105/Z/16/Z

History