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