Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population
J Appl Genet. 2024 Mar 29. doi: 10.1007/s13353-024-00855-2. Online ahead of print.ABSTRACTGenetic cardiomyopathies (CM) are disorders that affect morphology and function of cardiac muscle. Significant number of genes have been implicated in causing the phenotype. It is one of the leading genetic causes of death in young. We performed a study to understand the genetic variants in primary cardiomyopathies in an Indian cohort. Study comprised of 22 probands (13 with family history) representing hypertrophic (n = 10), dilated (n = 7), restrictive (n = 2) and arrhythmogenic ventricular(n = 3) cardiomyopathies. Genomic DNA was t...
Source: J Appl Genet - March 29, 2024 Category: Genetics & Stem Cells Authors: Saroja Mysore Krishnaswamy Gautham Arunachal Kumar Gautam Singh Viji Samuel Thomson Paul George Sudha Rao Sumita Danda Source Type: research

Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population
J Appl Genet. 2024 Mar 29. doi: 10.1007/s13353-024-00855-2. Online ahead of print.ABSTRACTGenetic cardiomyopathies (CM) are disorders that affect morphology and function of cardiac muscle. Significant number of genes have been implicated in causing the phenotype. It is one of the leading genetic causes of death in young. We performed a study to understand the genetic variants in primary cardiomyopathies in an Indian cohort. Study comprised of 22 probands (13 with family history) representing hypertrophic (n = 10), dilated (n = 7), restrictive (n = 2) and arrhythmogenic ventricular(n = 3) cardiomyopathies. Genomic DNA was t...
Source: J Appl Genet - March 29, 2024 Category: Genetics & Stem Cells Authors: Saroja Mysore Krishnaswamy Gautham Arunachal Kumar Gautam Singh Viji Samuel Thomson Paul George Sudha Rao Sumita Danda Source Type: research

Ferroptosis in Cardiovascular Disease and Cardiomyopathies: Therapeutic Implications of Glutathione and Iron Chelating Agents
Biomedicines. 2024 Mar 1;12(3):558. doi: 10.3390/biomedicines12030558.ABSTRACTThis review explores ferroptosis, a form of regulated cell death reliant on iron-induced phospholipid peroxidation, in diverse physiological and pathological contexts, including neurodegenerative disorders, and ischemia-reperfusion. In the realm of cardiovascular diseases, it significantly contributes to cardiomyopathies, including dilated cardiomyopathy, hypertrophic cardiomyopathy, and restrictive cardiomyopathy. Ferroptosis involves intricate interactions within cellular iron metabolism, lipid peroxidation, and the balance between polyunsatura...
Source: Atherosclerosis - March 28, 2024 Category: Cardiology Authors: John Dawi Scarlet Affa Edgar Gonzalez Yura Misakyan David Nikoghosyan Karim Hajjar Samuel Kades Sabrina Fardeheb Hayk Mirzoyan Vishwanath Venketaraman Source Type: research

Compound SJ-12 attenuates streptozocin-induced diabetic cardiomyopathy by stabilizing SERCA2a
Biochim Biophys Acta Mol Basis Dis. 2024 Mar 26:167140. doi: 10.1016/j.bbadis.2024.167140. Online ahead of print.ABSTRACTHeart failure (HF) is one of the major causes of death among diabetic patients. Although studies have shown that curcumin analog C66 can remarkably relieve diabetes-associated cardiovascular and kidney complications, the role of SJ-12, SJ-12, a novel curcumin analog, in diabetic cardiomyopathy and its molecular targets are unknown. 7-week-old male C57BL/6 mice were intraperitoneally injected with single streptozotocin (STZ) (160 mg/kg) to develop diabetic cardiomyopathy (DCM). The diabetic mice were then...
Source: Biochimica et Biophysica Acta - March 28, 2024 Category: Biochemistry Authors: Shuaijie Lou Weiwei Zhu Tianxiang Yu Qianhui Zhang Minxiu Wang Leiming Jin Yongqiang Xiong Jiachen Xu Qinyan Wang Gaozhi Chen Guang Liang Xiang Hu Wu Luo Source Type: research

Ferroptosis in Cardiovascular Disease and Cardiomyopathies: Therapeutic Implications of Glutathione and Iron Chelating Agents
Biomedicines. 2024 Mar 1;12(3):558. doi: 10.3390/biomedicines12030558.ABSTRACTThis review explores ferroptosis, a form of regulated cell death reliant on iron-induced phospholipid peroxidation, in diverse physiological and pathological contexts, including neurodegenerative disorders, and ischemia-reperfusion. In the realm of cardiovascular diseases, it significantly contributes to cardiomyopathies, including dilated cardiomyopathy, hypertrophic cardiomyopathy, and restrictive cardiomyopathy. Ferroptosis involves intricate interactions within cellular iron metabolism, lipid peroxidation, and the balance between polyunsatura...
Source: Atherosclerosis - March 28, 2024 Category: Cardiology Authors: John Dawi Scarlet Affa Edgar Gonzalez Yura Misakyan David Nikoghosyan Karim Hajjar Samuel Kades Sabrina Fardeheb Hayk Mirzoyan Vishwanath Venketaraman Source Type: research

Compound SJ-12 attenuates streptozocin-induced diabetic cardiomyopathy by stabilizing SERCA2a
Biochim Biophys Acta Mol Basis Dis. 2024 Mar 26;1870(5):167140. doi: 10.1016/j.bbadis.2024.167140. Online ahead of print.ABSTRACTHeart failure (HF) is one of the major causes of death among diabetic patients. Although studies have shown that curcumin analog C66 can remarkably relieve diabetes-associated cardiovascular and kidney complications, the role of SJ-12, SJ-12, a novel curcumin analog, in diabetic cardiomyopathy and its molecular targets are unknown. 7-week-old male C57BL/6 mice were intraperitoneally injected with single streptozotocin (STZ) (160 mg/kg) to develop diabetic cardiomyopathy (DCM). The diabetic mice w...
Source: Biochimica et Biophysica Acta - March 28, 2024 Category: Biochemistry Authors: Shuaijie Lou Weiwei Zhu Tianxiang Yu Qianhui Zhang Minxiu Wang Leiming Jin Yongqiang Xiong Jiachen Xu Qinyan Wang Gaozhi Chen Guang Liang Xiang Hu Wu Luo Source Type: research

A New Leu714Arg Variant in the Converter Domain of < em > MYH7 < /em > is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy
CONCLUSIONS: This case presents a new likely pathogenic variant in MYH7 and supports the hypothesis that myosin converter mutations constitute a subclass of HCM mutations with a poor prognosis for the patient.PMID:38538344 | DOI:10.31083/j.fbs1601001 (Source: Frontiers in Bioscience - Scholar)
Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Maria V Golubenko Elena N Pavlyukova Ramil R Salakhov Oksana A Makeeva Konstantin V Puzyrev Oleg S Glotov Valery P Puzyrev Maria S Nazarenko Source Type: research