Blood m.3243A>G levels in a cohort of mitochondrial disease patients
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 patient 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
Further details of the protocol for collection of these data are available within:
Grady, Pickett et al. 2018 (doi: 10.15252/emmm.201708262) and
PIckett, Blain et al. 2019 (doi: 10.1056/NEJMc1808565).
If you use any of this data respository in any published work, please cite using:
Pickett, SJ, Shiau Ng, Y, Wilson, I, Alston, C, Blakely, E, Turnbull, D, Gorman, G, Taylor, RW, Mcfarland, R
"Blood m.3243A>G levels in a cohort of mitochondrial disease patients" DOI:10.25405/data.ncl.20286219
