Research Highlights

New genetic mutation behind bone marrow failure identified

Published online 25 September 2014

Biplab Das

Telomeres are short segments of DNA that protect the ends of chromosomes. Each time a cell divides, telomere length shortens. Unchecked telomere shortening, however, can cause cell death—unless germ and stem cells restrict that with the help of telomerase enzyme and other specific proteins. 

Any mutations in the genes that encode telomerase and the proteins may irreversibly shorten telomere length leading to diseases such as bone marrow failure. 

By sequencing the genomes of Australian patients with inherited bone marrow failure, an international research team has identified a new genetic mutation in a gene called adrenocortical dysplasia (ACD) that encodes telomere-binding protein TPP1. This protein is necessary for recruiting telomerase to telomeres for maintaining their length.

The researchers from the Children’s Medical Research Institute, Australia and King Faisal Specialist Hospital and Research Centre, Saudi Arabia, found that the mutation in the ACD gene caused the deletion of lysine, an amino acid in TPP1. They detected that the deletion of amino acid took place on a part of TPP1 that specifically interacts with telomerase. The findings of the study have been published in Blood1.  

“This study demonstrates that this particular mutation results in less telomerase getting to telomeres. Using this knowledge, it may be possible to develop telomerase activators to boost the process of telomere lengthening in patients with short telomere syndrome,” says Tracy Bryan, a senior author of the study. 


  1. Guo, Y. et al. Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood (2014).