Abstract
Two sons and one daughter of healthy consanguineous parents presented with fatal hepatic failure in association with severe depletion of mitochondrial (mt)DNA in liver; a third son is healthy. Other published cases of mtDNA depletion concern single members of a family, which excludes the use of haplotype analysis. In the family presented here, the inheritance of the genes for mitochondrial transcription factor A (mtTFA), nuclear respiratory factor 1 (NRF-1), mitochondrial single-stranded DNA-binding protein (mtSSBP), and endonuclease G (EndoG) was studied using microsatellite markers linked to these genes. The inheritance of the gene for mtDNA polymerase (pol γ) was studied using a polymorphic CAG repeat present within the coding region of the gene. EndoG and mtSSBP were excluded, but mtTFA remains a candidate. Pol γ or NRF-1 involvement would be compatible only with autosomal dominant inheritance. Coding sequence analysis of NRF-1 and mtTFA revealed no novel mutations in affected individuals.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 23 May 1997 / Accepted: 13 November 1997
Rights and permissions
About this article
Cite this article
Spelbrink, J., Van Galen, M., Zwart, R. et al. Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes. Hum Genet 102, 327–331 (1998). https://doi.org/10.1007/s004390050700
Issue Date:
DOI: https://doi.org/10.1007/s004390050700