Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is an anatomic and pathologic condition associated with muscular and electrical dysfunction of the heart, often leading to heart failure-related disability. There is currently no specific therapy available for patients that target the molecular pathophysiology of LMNA cardiomyopathy.
An international study, which collaborated several researchers of the institute showed here an increase in oxidative stress levels in the hearts of mice carrying LMNA mutation, associated with a decrease of the key cellular antioxidant glutathione. Oral administration of N-acetyl cysteine (NAC), a glutathione precursor, led to a marked improvement of glutathione content, a decrease in oxidative stress markers including protein carbonyls and an improvement of left ventricular structure and function in a model of LMNA cardiomyopathy.
Collectively, their novel results provide therapeutic insights into LMNA cardiomyopathy.
N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene.Rodriguez BM, Khouzami L, Decostre V, Varnous S, Pekovic-Vaughan V, Hutchison CJ, Pecker F, Bonne G, Muchir A.Hum Mol Genet. 2018 Jun 30. doi: 10.1093/hmg/ddy243. [Epub ahead of print]