Leggi ora

CNS-ICNA 2020

In diretta dalla conferenza

Pathogenic variants in TNNC2 cause congenital myopathy, researchers say

Researchers have identified novel genetic variants that cause congenital myopathy, and a potential treatment strategy for overcoming it.

“Troponin C (TnC) is a critical regulator of skeletal muscle contraction,” said Dr Martijn van de Locht of Amsterdam UMC in Amsterdam, the Netherlands. “Surprisingly, the gene encoding fast skeletal TnC (TNNC2) has never been implicated in muscle disease.”

At WMS 2020, Dr van de Locht presented findings on two families with pathogenic variants in TNNC2. Affected patients had congenital muscle disease, characterized by muscle weakness, poor muscle contractility, and difficulty breathing.

Using molecular simulation models, the researchers showed that the 2 pathogenic variants, c.100G>T and c.237G>C, disrupt TnC binding sites for calcium and troponin I, respectively. Both variants result in myocytes with markedly reduced calcium sensitivity.

Ology Medical Education is a global provider of independent medical education. Its mission is to provide healthcare professionals with high-quality, trusted medical information with the aim of helping optimize patient care.

No responsibility is assumed by Ology Medical Education for any injury and/or damage to persons or property through negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, Ology Medical Education recommends that independent verification of diagnoses and drug dosages should be made. The opinions expressed do not reflect those of Ology Medical Education or the sponsor. Ology Medical Education assumes no liability for any material contained herein.