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The HCM-Associated Cardiac Troponin T Mutation K280N Increases the Energetic Cost of Tension Generation in Human Cardiac Myofibrils
- Source :
- BIOPHYSICAL JOURNAL. 104(2)
- Publication Year :
- 2013
-
Abstract
- A novel homozygous mutation in the TNNT2 gene encoding cardiac troponin T (cTnT K280N) was identified in one HCM patient undergoing cardiac transplantation. mRNA and Mass Spectrometry analyses revealed expression of the mutant alleles without evidence of haploinsufficiency. Kinetics of contraction and relaxation of myofibrils from a frozen left ventricular sample of the K280N HCM patient were compared to those of “control” myofibrils (from donor hearts, from aortic stenosis patients, and from HCM patients negative for sarcomeric protein mutations). Preparations, mounted in a force recording apparatus (15 °C), were maximally Ca2+-activated (pCa 4.5) and fully relaxed (pCa 9) by rapid (
- Subjects :
- 0303 health sciences
medicine.medical_specialty
TNNT2
Chemistry
Biophysics
Isometric exercise
Anatomy
Sarcomere
Transplantation
03 medical and health sciences
0302 clinical medicine
Endocrinology
Troponin complex
Mutant protein
Internal medicine
medicine
media_common.cataloged_instance
European union
Myofibril
030217 neurology & neurosurgery
030304 developmental biology
media_common
Subjects
Details
- ISSN :
- 00063495
- Volume :
- 104
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- BIOPHYSICAL JOURNAL
- Accession number :
- edsair.doi.dedup.....3eff1a6b787a274743c049b56a9b9a15