Research highlight

A modifier gene identified for hereditary haemorrhagic telangiectasia

Nature Communications

January 11, 2012

A gene identified in mice and humans that is associated with pulmonary arterial venous malformations, a feature of some types of hereditary haemorrhagic telangiectasia is published in Nature Communications this week. These findings provide further molecular details about the disease and explain, in part, the variable features of this disease. Hereditary haemorrhagic telangiectasia is a disease of the venous system and can be associated with serious complications including pulmonary arteriovenous malformations. This feature of the disease is found in 50% of patients. Mutations in proteins in the TGFβ, signalling pathway cause hereditary haemorrhagic telangiectasia but what governs the range in disease severity is unknown. Rosemary Akhurst and colleagues capitalised on previous studies that showed that mice lacking TGFβ do not survive to birth but this is affected by the strain of mouse used. In this study, they narrowed down the region of the mouse genome that is involved in the range in lethality in mice and identified the phosphatase gene PTPN14 as playing a part. By studying Dutch and French cohorts of patients with hereditary haemorrhagic telangiectasia they showed that genetic variations in PTPN14 were associated with the presence of pulmonary arteriovenous malformations. These findings suggest that PTPN14 is a modifier gene associated with the presence of pulmonary arteriovenous malformations in patients with hereditary haemorrhagic telangiectasia.

doi: 10.1038/ncomms1633

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