Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human

Niskanen, Julia E.; Ohlsson, Åsa; Ljungvall, Ingrid; Drögemüller, Michaela; Ernst, Robert F.; Dooijes, Dennis; van Deutekom, Hanneke W. M.; van Tintelen, J. Peter; Snijders Blok, Christian J. B.; van Vugt, Marion; van Setten, Jessica; Asselbergs, Folkert W.; Petrič, Aleksandra Domanjko; Salonen, Milla; Hundi, Sruthi; Hörtenhuber, Matthias; ,; Daub, Carsten; Araujo, César L.; Quintero, Ileana B.; Kyöstilä, Kaisa; Kaukonen, Maria; Arumilli, Meharji; Sarviaho, Riika; Puurunen, Jenni; Sulkama, Sini; Karjalainen, Sini; Sukura, Antti; Syrjä, Pernilla; Airas, Niina; Pekkarinen, Henna; Kareinen, Ilona; Javela, Hanna-Maaria; Knuuttila, Anna; Nordgren, Heli; Hagner, Karoliina; Pääkkönen, Tarja; Iivanainen, Antti; Krjutskov, Kaarel; Ezer, Sini; Saarinen, Auli; Katayama, Shintaro; Yoshihara, Masahito; Mukarram, Abdul Kadir; Aljelaify, Rasha Fahad; Ross, Fiona; Raman, Amitha; Stevens, Irene; Gusev, Oleg; Bannasch, Danika; Schoenebeck, Jeffrey J.; Kere, Juha; Pyle, W. Glen; Donner, Jonas; Postma, Alex V.; Leeb, Tosso; Andersson, Göran; Hytönen, Marjo K.; Häggström, Jens; Wiberg, Maria; Friederich, Jana; Eberhard, Jenny; Harakalova, Magdalena; van Steenbeek, Frank G.; Wess, Gerhard; Lohi, Hannes

doi:10.1186/s13073-023-01221-3

Cited by 2 publications

(1 citation statement)

References 108 publications

(134 reference statements)

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“…According to statistics, the prevalence of heart failure is expected to increase by 46% from 2012 to 2030, and the proportion of the total population with heart failure is projected to rise from 2.4% to 3.0%. 4,5 Western medicine in the drug treatment of this disease mainly uses cardiotonic, diuretic, vasodilator, etc. In the acute or advanced stage of heart failure, there are many non-pharmacological treatments, including cardiac resynchronisation therapy, implantable cardiac defibrillator, cardiac transplantation, total artificial heart, gene and cell therapy.…”

Section: Introductionmentioning

confidence: 99%

AMPK Signalling Pathway: A Potential Strategy for the Treatment of Heart Failure with Chinese Medicine

Liu,

Guo,

Zhou

et al. 2023

JIR

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Heart failure (HF) is a complex clinical syndrome that represents the advanced stage of cardiovascular disease, characterized by systolic and diastolic dysfunction of the heart. Despite continuous updates in HF treatment drugs, the morbidity and mortality rates remain high, necessitating ongoing exploration for new therapeutic targets. Adenosine monophosphate-activated protein kinase (AMPK) is the serine/ threonine protein kinase which responds to adenosine monophosphate (AMP) levels.Activation of AMPK shifts cellular metabolic patterns from synthesis to catabolism, enhancing energy metabolism in pathological conditions such as inflammation, ischemia, obesity, and aging. Numerous studies have identified AMPK as a vital target for HF treatment, with herbal monomers/extracts and compounds affecting key signaling factors including rapamycin targeting protein (mTOR), silencing regulator protein 1 (SIRT1), nuclear transcription factor E2-related factor 2 (Nrf2), and nuclear transcription factor-κB (NF-κB) through regulation of the AMPK signaling pathway.This modulation can achieve the effects of improving metabolism, autophagy, reducing oxidative stress and inflammatory response in the treatment of heart failure, with the advantages of multi-targeting, comprehensive action and low toxicity.The modulation of the AMPK pathway by Traditional Chinese Medicine (TCM) has emerged as a crucial research direction for the prevention and treatment of HF, but a systematic summary and generalization in this field is lacking. This article provides an overview of the composition, regulation, and mechanism of the AMPK signaling pathway's influence on HF, as well as a summary of current research on the regulation of the AMPK pathway by TCM for HF prevention and treatment. The aim is to serve as a reference for the diagnosis and treatment of HF using TCM and the development of new drugs.

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Section: Introductionmentioning

confidence: 99%

AMPK Signalling Pathway: A Potential Strategy for the Treatment of Heart Failure with Chinese Medicine

Liu,

Guo,

Zhou

et al. 2023

JIR

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Determinants of de novo mutations in extended pedigrees of 43 dog breeds

Zhang,

Ma,

Riera

et al. 2024

Preprint

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Intensive breeding of dogs has had dramatic effects on genetic variants underlying phenotypes. To investigate whether this also affected mutation rates, we deep-sequenced pedigrees from 43 different dog breeds representing 404 trios. We find that the mutation rate is remarkably stable across breeds and is predominantly influenced by variation in parental ages. The effect of paternal age per year on mutation rates is approximately 1.5 times greater in dogs than humans, suggesting that the elevated yearly mutation rate in dogs is only partially attributed to earlier reproduction. While there is no significant effect of breeds on the overall mutation rate, larger breeds accumulate proportionally more mutations earlier in development than small breeds. Interestingly, we find a 2.6 times greater mutation rate in CG Islands (CGIs) compared to the remaining genome in dogs, unlike humans, where there is no difference. Our estimated rate of mutation by recombination in dogs is more than 10 times larger than estimates in humans. We ascribe these to the fact that canids have lost PRDM9-directed recombination and draw away recombination from CGIs. In conclusion, our study sheds light on stability of mutation processes and disparities in mutation accumulation rates reflecting the influence of differences in growth patterns among breeds, and the impact of PRDM9 gene loss on the de novo mutations of canids.

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Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human

Cited by 2 publications

References 108 publications

AMPK Signalling Pathway: A Potential Strategy for the Treatment of Heart Failure with Chinese Medicine

AMPK Signalling Pathway: A Potential Strategy for the Treatment of Heart Failure with Chinese Medicine

Determinants of de novo mutations in extended pedigrees of 43 dog breeds

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