Histiocytoid Cardiomyopathy: A Mitochondrial Disorder

Finsterer, Josef

doi:10.1002/clc.20224

Cited by 50 publications

(28 citation statements)

References 26 publications

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“…The m.15498G4A (p.MT-CYB: Gly251Asp) mutation can cause histiocytoid cardiomyopathy that usually occurs in infancy or childhood. 48,49 In this study, the proband developed HL at the age of 35 years. The results of the pure tone audiogram showed high-frequency SNHL (Figure 3c).…”

Section: Discussionmentioning

confidence: 84%

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

et al. 2010

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Sensorineural hearing loss (HL) is one of the most frequent clinical features in patients with mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, and hearing is impaired in over half of all cases with mitochondrial disorders. This study analyzed 373 patients with suspected hereditary HL using an extensive and rapid suspension-array screening system for 29 major mtDNA mutations, including the m.1555A4G homoplasmic mutation in the MT-RNR1 gene, which causes non-syndromic sensorineural HL and aminoglycoside-induced HL, and the m.3243A4G heteroplasmic mutation in the MT-TL1 gene. This method is rapid and suitable for large-scale screening because universal 96-well plates are available for use, and because an analysis of each plate can be completed within 1 h. This system detected five different mtDNA mutations in 24 of the 373 (6.4%) patients. The m.1555A4G and m.3243A4G mutations were detected in 11 (2.9%) and 9 (2.7%) patients, respectively. In addition, three mutations, that is, m.8348A4G in the MT-TK gene, m.11778G4A in the MT-ND4 gene and 15498G4A in the MT-CYB gene were detected in one patient for each. This screening system is useful for the genetic diagnosis and epidemiological study of both syndromic and non-syndromic HL.

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Section: Discussionmentioning

confidence: 84%

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

et al. 2010

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“…The myopathic heart disease presents as hypertrophic or dilated cardiomyopathy, and left ventricular noncompaction syndrome or histiocytoid cardiomyopathy [126][127][128][129]. The prevalence of cardiomyopathy has been found in 40 % of children with mitochondrial disease, with an earlier age of onset (33 months vs 40 months) and a substantially increased morbidity (82 % vs 5 %) compared with those without cardiac manifestations [126].…”

Section: Heartmentioning

confidence: 99%

Mitochondrial Disease in Childhood: Nuclear Encoded

2013

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Primary mitochondrial disorders are clinically and genetically heterogeneous, caused by an alteration(s) in either mitochondrial DNA or nuclear DNA, and affect the respiratory chain's ability to undergo oxidative phosphorylation, leading to decreased production of adenosine triphosphophate and subsequent energy failure. These disorders may present at any age, but children tend to have an acute onset of disease compared with subacute or slowly progressive presentation in adults. Varying organ involvement also contributes to the phenotypic spectrum seen in these disorders. The childhood presentation of primary mitochondrial disease is mainly due to nuclear DNA mutations, with mitochondrial DNA mutations being less frequent in childhood and more prominent in adulthood disease. The clinician should be aware of the pediatric presentation of mitochondrial disease and have an understanding of the myriad of nuclear genes responsible for these disorders. The nuclear genes can be best understood by utilizing a classification system of location and function within the mitochondria.

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“…Due to mitochondrial and nuclear genes mutations, arrhythmia is often associated with patients of mitochondrial diseases313233. Although abnormality of [Ca 2+ ] in mitochondria buffering is well known to be involved in arrhythmia, the mechanisms are not clear3435.…”

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confidence: 99%

5-HTR3 and 5-HTR4 located on the mitochondrial membrane and functionally regulated mitochondrial functions

Wang

Zhang

et al. 2016

Sci Rep

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5-HT has been reported to possess significant effects on cardiac activities, but activation of 5-HTR on the cell membrane failed to illustrate the controversial cardiac reaction. Because 5-HT constantly comes across the cell membrane via 5-HT transporter (5-HTT) into the cytoplasm, whether 5-HTR is functional present on the cellular organelles is unknown. Here we show 5-HTR3 and 5-HTR4 were located in cardiac mitochondria, and regulated mitochondrial activities and cellular functions. Knock down 5-HTR3 and 5-HTR4 in neonatal cardiomyocytes resulted in significant increase of cell damage in response to hypoxia, and also led to alternation in heart beating. Activation of 5-HTR4 attenuated mitochondrial Ca2+ uptake under the both normoxic and hypoxic conditions, whereas 5-HTR3 augmented Ca2+ uptake only under hypoxia. 5-HTR3 and 5-HTR4 exerted the opposite effects on the mitochondrial respiration: 5-HTR3 increased RCR (respiration control ratio), but 5-HTR4 reduced RCR. Moreover, activation of 5-HTR3 and 5-HTR4 both significantly inhibited the opening of mPTP. Our results provided the first evidence that 5-HTR as a GPCR and an ion channel, functionally expressed in mitochondria and participated in the mitochondria function and regulation to maintain homeostasis of mitochondrial [Ca2+], ROS, and ATP generation efficiency in cardiomyocytes in response to stress and O2 tension.

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Histiocytoid Cardiomyopathy: A Mitochondrial Disorder

Cited by 50 publications

References 26 publications

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

Mitochondrial Disease in Childhood: Nuclear Encoded

5-HTR3 and 5-HTR4 located on the mitochondrial membrane and functionally regulated mitochondrial functions

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