Do mitochondria contribute to left ventricular non-compaction cardiomyopathy? New findings from myocardium of patients with left ventricular non-compaction cardiomyopathy

Liu, Shenghua; Bai, Yuanyuan; Huang, Jie; Zhao, Hong; Xiao-ling, Zhang; Hu, Shengshou; Wei, Yingjie

doi:10.1016/j.ymgme.2013.02.004

Cited by 36 publications

(33 citation statements)

References 29 publications

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“…Altogether, 11 studies on ultrastructural investigations with a total of 13 LVHT patients were detected [3,4,5,6,7,8,9,10,11,12,13]. Ultrastructural investigations of LVHT were first carried out by Allenby et al [3].…”

Section: Resultsmentioning

confidence: 99%

“…In a study on 6 patients with LVHT published by Liu et al [11] in 2013, electron microscopy of the myocardium in 1 of these patients (not specified which of the 6) showed obvious morphological abnormalities of the mitochondrial ultrastructure and the sarcomeric organization. There was disruption of the normal parallel orientation between mitochondria and sarcomeres, vacuolated cristae, and reduced crista density [11].…”

Section: Resultsmentioning

confidence: 99%

“…There was disruption of the normal parallel orientation between mitochondria and sarcomeres, vacuolated cristae, and reduced crista density [11]. …”

Section: Resultsmentioning

confidence: 99%

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Ultrastructural Findings in Noncompaction Prevail with Neuromuscular Disorders

Finsterer

Stöllberger²

2013

Cardiology

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Objectives: Little is known about the ultrastructural abnormalities of left ventricular hypertrabeculation/noncompaction (LVHT). This literature review aimed to summarize and discuss ultrastructural abnormalities described in LVHT so far. Methods: The literature search was conducted via MEDLINE using the search terms ‘non-compaction', ‘noncompaction', ‘left ventricular hypertrabeculation', ‘spongy myocardium' in combination with the terms ‘ultra-structural', or ‘electron microscopy'. Results: Altogether, 11 studies reporting ultrastructural investigations of LVHT were retrieved. In these 11 studies, data on 13 patients with LVHT were presented. Ultrastructural abnormalities found in these study patients were generally nonspecific and included an increase in the number of mitochondria (n = 3), abnormally shaped mitochondria (n = 2), distorted cristae (n = 3), sarcomeric derangement (n = 3), immature cardiomyocytes (n = 1), lipid-like inclusions (n = 1), enlarged interstitial spaces (n = 1), increased interstitial collagen (n = 1), or increased glycogen (n = 1). The morphological abnormalities were most prominent in patients with a neuromuscular disorder like Barth syndrome or mitochondrial myopathy. Conclusions: Only in few patients with LVHT, ultrastructural investigations have been performed so far. Ultrastructural abnormalities in LVHT are nonspecific and most prominent in patients with a neuromuscular disorder. There is a strong need to carry out thorough ultrastructural investigations of LVHT to contribute to the understanding of this still unexplained myocardial abnormality.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Ultrastructural Findings in Noncompaction Prevail with Neuromuscular Disorders

Finsterer

Stöllberger²

2013

Cardiology

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“…The role of molecular regulators of mitochondrial fission and fusion and the influences of cell stress and intracellular redox state on mitochondrial dynamics represents an exciting and actively developing research field [12]. Liu et al [13] have provided evidence indicating that mutations in mitochondrial DNA may result in LVHT. Point mutations identified in noncompaction patients have been found in the genes for MT-ND1, MT-TL1, MT-ATP6, MT-ATP8, and MT-CYB.…”

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confidence: 99%

“…Their investigation points to a lower mtDNA copy number associated with LVNC which may relate to aberrant mitochondrial biogenesis and consequently induction of apoptosis. These investigators propose that an understanding of the pathogenesis of LVHT can be achieved by analysis of nuclear gene mutations for certain sarcomeric proteins and cytoskeletal proteins as well as the gene TAZ involved in the mitochondrial ETC examined in combination with the mitochondrial DNA variants mentioned above [13]. …”

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confidence: 99%

Studies on Left Ventricular Hypertrabeculation/Noncompaction: The Need for In-Depth Ultrastructural Investigations

Prentice

2013

Cardiology

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Implications of genetic testing in noncompaction/hypertrabeculation

Shieh¹

2013

American J of Med Genetics Pt C

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Noncompaction/hypertrabeculation is increasingly being recognized in children and adults, yet we understand little about the causes of disease. Genes associated with noncompaction/hypertrabeculation have been identified, but how can these assist in clinical management? Genomic technologies have also expanded tremendously, making testing more comprehensive, but they also present new questions given the tremendous diversity of phenotypes and variability of genomes. Here we present genetic evaluation strategies and assess clinical testing options for noncompaction/hypertrabeculation. We assess genes/gene panels offered by clinical laboratories and the potential for high-throughput sequencing to fuel further discovery. We discuss challenges in cardiovascular genetics, such as interpretation of genomic variants, prediction and disease penetrance.

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Do mitochondria contribute to left ventricular non-compaction cardiomyopathy? New findings from myocardium of patients with left ventricular non-compaction cardiomyopathy

Cited by 36 publications

References 29 publications

Ultrastructural Findings in Noncompaction Prevail with Neuromuscular Disorders

Ultrastructural Findings in Noncompaction Prevail with Neuromuscular Disorders

Studies on Left Ventricular Hypertrabeculation/Noncompaction: The Need for In-Depth Ultrastructural Investigations

Implications of genetic testing in noncompaction/hypertrabeculation

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