4.7 Article

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

Journal

ANNALS OF NEUROLOGY
Volume 86, Issue 2, Pages 310-315

Publisher

WILEY
DOI: 10.1002/ana.25525

Keywords

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Funding

  1. Wellcome Trust [201064/Z/16/Z] Funding Source: Wellcome Trust
  2. MRC [MR/N025431/2, MR/L016354/1, MR/K000608/1, G1000848, G0800674, MC_UU_00015/9, MR/N010035/1, MR/S005021/1, MR/S002065/1, G0601943, MR/N025431/1, MC_UU_00015/8] Funding Source: UKRI
  3. Biotechnology and Biological Sciences Research Council Funding Source: Medline
  4. Medical Research Council [MR/N010035/1, MC_UP_1501/2, MR/N025431/1, G1000848, L016354, MR/K000608/1, G0601943, MR/N025431/2, MC_UU_00015/9, MR/S002065/1, MR/L016354/1, G0800674, MC_UU_00015/8, MR/S005021/1] Funding Source: Medline
  5. Wellcome Trust [203105, 201064/Z/16/Z, 109915/Z/15/Z, 212219/Z/18/Z] Funding Source: Medline
  6. Department of Health [NIHR-HCS-D12-03-04] Funding Source: Medline

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Distinct clinical syndromes have been associated with pathogenic MT-ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty-one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa. The remaining 50 patients presented with variable nonsyndromic features including ataxia, neuropathy, and learning disability. We confirmed maternal inheritance in 39 families and demonstrated that tissue segregation patterns and phenotypic threshold are variant dependent. Our findings suggest that MT-ATP6-related mitochondrial DNA disease is best conceptualized as a mitochondrial disease spectrum disorder and should be routinely included in genetic ataxia and neuropathy gene panels. ANN NEUROL 2019;86:310-315

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