Rare gene-mutation discovered, could help treat cancer

Researchers have discovered a gene mutation that is so rare it only affects one in a million people.

Diandra Edmondson, who suffers from Aplastic Anemia, has the gene and hopes the breakthrough will aid the treatment of her disease.

Researchers from Children’s Medical Research Institute (CMRI) and Children’s Hospital at Westmead (CHW) have identified a gene defect that causes aplastic anaemia – a disease characterised by bone marrow failure and a predisposition to cancer.

This gene – TPP1 – is the newest of 10 genes that are known to cause “short telomere syndromes”, a group of diseases which cause premature ageing and a predisposition to certain blood disorders and cancer. Aplastic anaemia, which leads to devastating bone marrow failure, is one of these diseases.The discovery will not only help identify patients that are predisposed to aplastic anaemia but will assist in the development of potential treatments for short telomere syndromes like aplastic anaemia.

“We’re thrilled by this discovery which has advanced our understanding of certain gene mutations and the causal relationship to specific diseases,” said Associate Professor Tracy Bryan, Unit Head, Cell Biology Unit at CMRI, who spearheaded the research.

TPP1 is a gene the human body needs for the normal functioning of telomeres, which are the caps on the ends of chromosomes that shorten as we age. The research discovery made by the scientists at CMRI and the CHW is the first demonstration that a defect in this gene can cause a human disease.

Researchers discovered that the TPP1 defect prevents an enzyme called telomerase –that keeps telomeres from shortening too much in stem cells and blood cells within bone marrow – from accessing telomeres. This means that patients with this defect have very short telomeres in their stem cells and bone marrow, and are more susceptible to premature ageing, bone marrow failure and have a higher predisposition to developing cancer.

The research, which involved a collaboration between CMRI, CHW and researchers at the Children’s Hospital of Philadelphia (USA) and BGI-Shenzhen (China), will be published in the leading medical journal Blood on Tuesday.

“What we have discovered is not only a huge step forward in the advancement of future treatment options for short telomere syndromes but it also adds to our understanding of the role of telomerase in cancer and ageing,” said Associate Professor Bryan.

The discovery follows 20 years of research into the role of telomeres and telomerase in cancer at CMRI. The Institute has the largest concentration of scientists dedicated to this field of research anywhere in the world and last month opened Australia’s first Telomere Analysis Centre in the new multi-million dollar tower extension of CMRI at Westmead.


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