Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review

Παπαθανασίου, Μαρία; Carpinteiro, Alexander; Kersting, David; Jakstaite, Aiste-Monika; Hagenacker, Tim; Schlosser, Thomas-Wilfried; Rischpler, Christoph; Rassaf, Tienush; Luedike, Peter

doi:10.1002/mgg3.1581

Cited by 10 publications

(1 citation statement)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[3] There are some variants considered more frequent in certain countries where they are stipulated as endemic variants in Spain (Mallorca), Portugal, Norway, Japan, Brazil. The p.Ser43Asn variant is a point mutation in exon 2, codon 43 of the TTR gene that leads to a single amino acid substitution of serine for asparagine; It is considered a rare variant, with little information in the literature; [4] There are few case reports on this particular variant. According to the work published by Maria Papahanasiou and colb, published in December 2020, it documents a report of 2 opportunely diagnosed patients from a family in Italy whose identified variant is the same as our cases and which is considered to have a clinically aggressive course.…”

Section: Discussionmentioning

confidence: 99%

Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: A Series of Cases

Luzuriaga,

Abrigo Maldonado,

Villacorta

2024

Preprint

View full text Add to dashboard Cite

Approximately more than 120 transthyretin mutations are known whose variation in clinical presentation is heterogeneous, as the course of disease onset depends on genetic variation and level of penetrance. It is little known in Ecuador, and some of the reported cases; suggest to the family tree analysis that they come from a province that is possibly considered endemic. The main objective is to carry out a descriptive cross-sectional analysis on the presentation of transthyretin amyloidosis in families carrying the p.Ser43Asn gene from the index case identified.

show abstract

Section: Discussionmentioning

confidence: 99%

Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: A Series of Cases

Luzuriaga,

Abrigo Maldonado,

Villacorta

2024

Preprint

View full text Add to dashboard Cite

show abstract

Cardiomyopathy: pathogenesis and therapeutic interventions

Huang,

Li,

et al. 2024

MedComm

View full text Add to dashboard Cite

Cardiomyopathy is a group of disease characterized by structural and functional damage to the myocardium. The etiologies of cardiomyopathies are diverse, spanning from genetic mutations impacting fundamental myocardial functions to systemic disorders that result in widespread cardiac damage. Many specific gene mutations cause primary cardiomyopathy. Environmental factors and metabolic disorders may also lead to the occurrence of cardiomyopathy. This review provides an in‐depth analysis of the current understanding of the pathogenesis of various cardiomyopathies, highlighting the molecular and cellular mechanisms that contribute to their development and progression. The current therapeutic interventions for cardiomyopathies range from pharmacological interventions to mechanical support and heart transplantation. Gene therapy and cell therapy, propelled by ongoing advancements in overarching strategies and methodologies, has also emerged as a pivotal clinical intervention for a variety of diseases. The increasing number of causal gene of cardiomyopathies have been identified in recent studies. Therefore, gene therapy targeting causal genes holds promise in offering therapeutic advantages to individuals diagnosed with cardiomyopathies. Acting as a more precise approach to gene therapy, they are gradually emerging as a substitute for traditional gene therapy. This article reviews pathogenesis and therapeutic interventions for different cardiomyopathies.

show abstract