Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#21
JOURNAL ARTICLE
Antonella De Lillo, Gita A Pathak, Aislinn Low, Flavio De Angelis, Sarah Abou Alaiwi, Edward J Miller, Maria Fuciarelli, Renato Polimanti
PURPOSE: Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of amyloidosis characterized by a complex genotype-phenotype correlation with limited information regarding differences among worldwide populations. METHODS: We compared 676 diverse individuals carrying TTR amyloidogenic mutations (rs138065384, Phe44Leu; rs730881165, Ala81Thr; rs121918074, His90Asn; rs76992529, Val122Ile) to 12,430 non-carriers matched by age, sex, and genetically-inferred ancestry to assess their clinical presentations across 1,693 outcomes derived from electronic health records in UK biobank...
March 25, 2024: Human Genomics
#22
JOURNAL ARTICLE
Frank Bridoux, Samih H Nasr
Amyloidosis is a rare cause of inherited kidney disease, with most variants responsible for prominent glomerular involvement. In this issue, Kmochová et al. reported the first description of autosomal dominant medullary amyloidosis due to apolipoprotein A4 variants, resulting in slowly progressive chronic kidney disease with minimal proteinuria. Combining next-generation sequencing with histopathological studies incorporating Congo red staining and mass spectrometry should be considered in the diagnostic workup of hereditary tubulointerstitial disorders not identified after routine genetic testing...
April 2024: Kidney International
#23
REVIEW
Nelson Leung, Samih H Nasr
Amyloidosis is a protein folding disease that causes organ injuries and even death. In humans, 42 proteins are now known to cause amyloidosis. Some proteins become amyloidogenic as a result of a pathogenic variant as seen in hereditary amyloidoses. In acquired forms of amyloidosis, the proteins form amyloid in their wild-type state. Four types (serum amyloid A (AA), transthyretin (ATTR), apolipoprotein AIV (ApoAIV), and beta-2-macroglobulin (AB2m)) of amyloid can occur either as acquired or as a mutant. Iatrogenic amyloid from injected protein medications have also been reported and AIL1RAP (anakinra) has been recently found to involve the kidney...
March 19, 2024: American Journal of Kidney Diseases
#24
JOURNAL ARTICLE
Marco Luigetti, Dianna Quan, John L Berk, Isabel Conceição, Yohei Misumi, Chi-Chao Chao, Shaun Bender, Emre Aldinc, John Vest, David Adams
INTRODUCTION: Hereditary transthyretin (ATTRv, v for variant) amyloidosis is a rare, progressive, fatal disease with multisystem manifestations, caused by pathogenic variants in the transthyretin (TTR) gene. Vutrisiran, an RNA interference therapeutic that results in rapid TTR knockdown, improved neuropathy and quality of life (QOL) versus external placebo in patients with ATTRv amyloidosis with polyneuropathy in the phase 3 HELIOS-A study (NCT03759379). This post hoc analysis evaluates the impact of baseline neuropathy severity on response to vutrisiran treatment...
March 21, 2024: Neurology and Therapy
#25
JOURNAL ARTICLE
Chieh-Chang Chen, Ping-Huei Tseng, Hsueh-Wen Hsueh, Ming-Chang Chiang, Shiou-Ru Tzeng, Tsung Hsien Chiang, Ming-Shiang Wu, Sung-Tsang Hsieh, Chi-Chao Chao
Increasing evidence suggests that gut microbiota alterations are related to development and phenotypes of many neuropsychiatric diseases. Here, we evaluated the fecal microbiota and its clinical correlates in patients with hereditary transthyretin amyloidosis (ATTRv) and polyneuropathy. Fecal microbiota from 38 ATTRv patients and 39 age-matched controls was analyzed by sequencing 16S V3-V4 ribosomal RNA, and its relationships with clinical characteristics of polyneuropathy and cardiomyopathy were explored. The familial amyloidotic polyneuropathy stage was stage I, II, and III in 13, 18, and 7 patients...
March 14, 2024: Scientific Reports
#26
REVIEW
Evelyn Meléndrez-Balcázar, Karla Aranda-Vela, Alberto Cervantes-Hernández, Samuel López-Cureño
Hereditary transthyretin amyloidosis (ATTRv) is a rare, progressive, and life-threatening disease caused by misfolded transthyretin (TTR) proteins that aggregate as abnormal amyloid fibrils and accumulate throughout the body. The kidney is one of the main organs affected in amyloid light chain (AL) amyloidosis and ATTRv amyloidosis. The most common clinical presentation is proteinuria, which consists mainly of albumin; this is the first step in the natural history of ATTRv nephropathy. Not all TTR mutations are equal in terms of ATTRv kidney involvement...
March 12, 2024: American Journal of Kidney Diseases
#27
JOURNAL ARTICLE
Liqun Liang, Yuqi Zhang, Yanyan Zhu, Juxia Bai, Yangyang Ni, Junfeng Wan, Haiyan Yue, Qingjie Zhao, Huiyu Li
Transthyretin (TTR) is a tetrameric homologous protein that can dissociate into monomers. Misfolding and aggregation of TTR can lead to amyloid transthyretin amyloidosis (ATTR), which can cause many diseases (e.g., senile systemic amyloidosis, familial amyloid cardiomyopathy, and familial amyloid polyneuropathy). Despite growing evidence indicating that small oligomers play a critical role in regulating cytotoxicity, the structures of these oligomeric intermediates and their conformational transformations are still unclear, impeding our understanding of neurodegenerative mechanisms and the development of therapeutics targeting early aggregation species...
March 14, 2024: ACS Chemical Neuroscience
#28
JOURNAL ARTICLE
Christopher J Record, Menelaos Pipis, Mariola Skorupinska, Julian Blake, Roy Poh, James M Polke, Kelly Eggleton, Tina Nanji, Stephan Zuchner, Andrea Cortese, Henry Houlden, Alexander M Rossor, Matilde Laura, Mary M Reilly
Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically heterogeneous inherited neurological diseases, with more than 130 disease-causing genes. Whole genome sequencing (WGS) has improved diagnosis across genetic diseases, but the diagnostic impact in CMT is yet to be fully reported. We present the diagnostic results from a single specialist inherited neuropathy centre, including the impact of WGS diagnostic testing. Patients were assessed at our specialist inherited neuropathy centre from 2009-2023...
March 14, 2024: Brain
#29
JOURNAL ARTICLE
Milou Berends, Anne F Brunger, Johan Bijzet, Bart-Jan Kroesen, Gea Drost, Fiete Lange, Charlotte E Teunissen, Sjors In 't Veld, Alexander Fje Vrancken, Reinold O B Gans, Bouke P C Hazenberg, Paul A van der Zwaag, Hans L A Nienhuis
OBJECTIVE: To evaluate serum neurofilament light chain (sNfL) as biomarker of disease onset, progression and treatment effect in hereditary transthyretin (ATTRv) amyloidosis patients and TTR variant ( TTR v) carriers. METHODS: sNfL levels were assessed longitudinally in persistently asymptomatic TTR v carriers ( N = 12), persistently asymptomatic ATTRv amyloidosis patients (defined as asymptomatic patients but with amyloid detectable in subcutaneous abdominal fat tissue) ( N = 8), in TTR v carriers who developed polyneuropathy ( N = 7) and in ATTRv amyloidosis patients with polyneuropathy on treatment (TTR-stabiliser ( N = 20) or TTR-silencer ( N = 18))...
March 13, 2024: Amyloid: the International Journal of Experimental and Clinical Investigation
#30
JOURNAL ARTICLE
Djouher Ait-Idir, Bahia Djerdjouri, Khaled Latreche, Rawda Sari-Hamidou, Ghalia Khellaf
Renal amyloid-associated (AA) amyloidosis is a harmful complication of familial Mediterranean fever (FMF). Its occurrence involves polymorphisms and mutations in the Serum Amyloid A1 (SAA1) and Mediterranean Fever (MEFV) genes, respectively. In Algeria, the association between SAA1 variants and FMF-related amyloidosis was not investigated, hence the aim of this case-control study. It included 60 healthy controls and 60 unrelated FMF patients (39 with amyloidosis, and 21 without amyloidosis). All were genotyped for the SAA1 alleles (SAA1...
March 7, 2024: Molecular Genetics and Genomics: MGG
#31
Bárbara Junqueira, Carlos Mestre
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant hereditary disorder. In Portugal, it is mainly linked to transthyretin (TTR) mutation, and patients present with length-dependent sensory-motor polyneuropathy, often accompanied by autonomic dysfunction. Treatment options for FAP include liver transplant, and due to the lack of organs, FAP livers began being implanted in patients with severe liver disease in a process known as domino liver transplantation (DLT). We report a case of a 68-year-old Portuguese man, with post-hepatitis C-related cirrhosis liver transplantation, who presented to his family doctor with decreased sensitivity in both feet and weight loss, which were initially attributed to diabetic neuropathy and an adjustment in diabetic medication, respectively...
February 2024: Curēus
#32
REVIEW
Luzern Tan, Roger W Byard
Although amyloid material in the heart is not infrequently encountered at autopsy it may on occasion be difficult to determine the significance in terms of possible contributions to the terminal mechanisms of death. A review was undertaken of the literature and of autopsy cases at Forensic Science SA over a 20-year-period (2003-2022) for all cases where significant amyloid material had been encountered on microscopy of the heart. Sixteen cases were found consisting of 11 cases where cardiac amyloid was involved in the lethal episode, and five where it was considered an incidental feature...
March 1, 2024: Journal of Forensic and Legal Medicine
#33
JOURNAL ARTICLE
Nicholas S Hendren, James A De Lemos, Jarett D Berry, Julia Kozlitina, Lorena Saelices, Alan X Ji, Zhili Shao, Chia-Feng Liu, Sonia Garg, Maryjane A Farr, Mark H Drazner, W H Wilson Tang, Justin L Grodin
BACKGROUND: Hereditary transthyretin cardiac amyloidosis (ATTRv-CA) has a long latency phase before clinical onset, creating a need to identify subclinical disease. We hypothesized circulating transthyretin (TTR) and retinol binding protein 4 (RBP4) levels would be associated with TTR carrier status and correlated with possible evidence of subclinical ATTRv-CA. METHODS: TTR and RBP4 were measured in blood samples from V122I TTR carriers and age-, sex- and race-matched non-carrier controls (1:2 matching) among Dallas Heart Study participants (phases 1 (DHS-1) and 2 (DHS-2))...
March 6, 2024: Amyloid: the International Journal of Experimental and Clinical Investigation
#34
JOURNAL ARTICLE
Xiaopeng He, Mengdie Wang, Jialu Sun, Zhengyang Yu, Xinyang Hu, Yu Liu, Xiaoping Lin
INTRODUCTION: Amyloidosis caused by TTR mutations (ATTRv) is a rare inherited and autosomal dominant disease. More than 150 mutants of TTR have been reported, whereas some of them remain to be investigated. METHODS: A 52-year-old male presented with heart failure and clinically diagnosed ATTR cardiac amyloidosis (ATTR-CA) was recruited. Whole exome sequencing (WES) was performed. Biochemical and biophysical experiments characterized protein stability using urea-mediated tryptophan fluorescence...
March 4, 2024: Cardiology
#35
JOURNAL ARTICLE
Aiman Masroor, Nida Zaidi, Faisal Nabi, Sadia Malik, Siffeen Zehra, Farukh Arjmand, Nida Naseem, Rizwan Hasan Khan
In the recent past, there has been an ever-increasing interest in the search for metal-based therapeutic drug candidates for protein misfolding disorders (PMDs) particularly neurodegenerative disorders such as Alzheimer's, Parkinson's, Prion's diseases, and amyotrophic lateral sclerosis. Also, different amyloidogenic variants of human lysozyme (HL) are involved in hereditary systemic amyloidosis. Metallo-therapeutic agents are extensively studied as antitumor agents, however, they are relatively unexplored for the treatment of non-neuropathic amyloidoses...
February 28, 2024: Biophysical Chemistry
#36
REVIEW
Tina Nie
Eplontersen (Wainua™) is a ligand-conjugated antisense oligonucleotide directed to TTR, which is being developed by Ionis Pharmaceuticals and AstraZeneca for the treatment of TTR-mediated amyloidosis (ATTR). Eplontersen, which is targeted to the liver by a ligand containing three N-acetyl galactosamine residues, binds to wild-type and variant TTR mRNA, thus reducing the levels of circulating TTR protein and amyloid deposition. Subcutaneous eplontersen reduced serum TTR levels, inhibited neuropathy progression and improved health-related quality of life in patients with polyneuropathy of hereditary ATTR (ATTRv-PN; v for variant) in a phase III trial...
February 28, 2024: Drugs
#37
JOURNAL ARTICLE
Dovilė Žebrauskienė, Eglė Sadauskienė, Rūta Masiulienė, Sigita Aidietienė, Agnė Šiaudinienė, Valdas Pečeliūnas, Gabrielė Žukauskaitė, Edvardas Žurauskas, Nomeda Valevičienė, Jūratė Barysienė, Eglė Preikšaitienė
Background and Objectives: Hereditary transthyretin amyloidosis (ATTRv) is a rare disease caused by pathogenic variants in the transthyretin ( TTR ) gene. More than 140 different disease-causing variants in TTR have been reported. Only a few individuals with a rare TTR variant, c.302C>T, p.(Ala101Val) (historically known as p.(Ala81Val)), primarily associated with cardiac ATTRv, have been described. Therefore, our aim was to analyze the clinical characteristics of individuals with the identified c.302C>T TTR variant at our center...
January 30, 2024: Medicina
#38
REVIEW
Danah Al Shaer, Othman Al Musaimi, Fernando Albericio, Beatriz G de la Torre
A total of nine TIDES (pepTIDES and oligonucleoTIDES) were approved by the FDA during 2023. The four approved oligonucleotides are indicated for various types of disorders, including amyotrophic lateral sclerosis, geographic atrophy, primary hyperoxaluria type 1, and polyneuropathy of hereditary transthyretin-mediated amyloidosis. All oligonucleotides show chemically modified structures to enhance their stability and therapeutic effectiveness as antisense or aptamer oligomers. Some of them demonstrate various types of conjugation to driving ligands...
February 13, 2024: Pharmaceuticals
#39
JOURNAL ARTICLE
Nelly Joseph-Mathurin, Rebecca L Feldman, Ruijin Lu, Zahra Shirzadi, Carmen Toomer, Junie R Saint Clair, Yinjiao Ma, Nicole S McKay, Jeremy F Strain, Collin Kilgore, Karl A Friedrichsen, Charles D Chen, Brian A Gordon, Gengsheng Chen, Russ C Hornbeck, Parinaz Massoumzadeh, Austin A McCullough, Qing Wang, Yan Li, Guoqiao Wang, Sarah J Keefe, Stephanie A Schultz, Carlos Cruchaga, Gregory M Preboske, Clifford R Jack, Jorge J Llibre-Guerra, Ricardo F Allegri, Beau M Ances, Sarah B Berman, William S Brooks, David M Cash, Gregory S Day, Nick C Fox, Michael Fulham, Bernardino Ghetti, Keith A Johnson, Mathias Jucker, William E Klunk, Christian la Fougère, Johannes Levin, Yoshiki Niimi, Hwamee Oh, Richard J Perrin, Gerald Reischl, John M Ringman, Andrew J Saykin, Peter R Schofield, Yi Su, Charlene Supnet-Bell, Jonathan Vöglein, Igor Yakushev, Adam M Brickman, John C Morris, Eric McDade, Chengjie Xiong, Randall J Bateman, Jasmeer P Chhatwal, Tammie L S Benzinger
INTRODUCTION: Amyloidosis, including cerebral amyloid angiopathy, and markers of small vessel disease (SVD) vary across dominantly inherited Alzheimer's disease (DIAD) presenilin-1 (PSEN1) mutation carriers. We investigated how mutation position relative to codon 200 (pre-/postcodon 200) influences these pathologic features and dementia at different stages. METHODS: Individuals from families with known PSEN1 mutations (n = 393) underwent neuroimaging and clinical assessments...
February 21, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
#40
JOURNAL ARTICLE
Antonia S Carroll, Susanna B Park, Cindy S Y Lin, Mark S Taylor, Fiona Kwok, Neil G Simon, Mary M Reilly, Matthew C Kiernan, Steve Vucic
OBJECTIVES: The treatment of hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN) has been revolutionised by genetic therapies, with dramatic improvements in patient outcomes. Whilst the optimal timing of treatment initiation remains unknown, early treatment is desirable. Consequently, the aim of the study was to develop biomarkers of early nerve dysfunction in ATTRv-PN. METHODS: Ulnar motor and sensory axonal excitability studies were prospectively undertaken on 22 patients with pathogenic hereditary transthyretin amyloid (ATTRv) gene variants, 12 with large fibre neuropathy (LF+) and 10 without (LF-), with results compared to age- and sex-matched healthy controls...
March 2024: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
