Genetic variant transthyretin. Medical search. Frequent questions

Transthyretin Cardiac Amyloidosis. (medicine-opera.com)
The October 26th edition of the NEJM has a paper entitled Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis . (medicine-opera.com)
Cardiac amyloidosis, specifically transthyretin cardiac amyloidosis (TTR-CA), poses a significant health burden in communities of African descent. (biomedcentral.com)
Technetium pyrophosphate scintigraphy indicated marked diffuse myocardial uptake of technetium pyrophosphate, strongly suggesting transthyretin cardiac amyloidosis, which was firmly confirmed by a left ventricular endomyocardial biopsy. (biomedcentral.com)
Here we report the case of a patient with hereditary cardiac amyloidosis associated with a Pro24Ser mutation in transthyretin, which is the first case reported in Japan. (biomedcentral.com)
Thus, we propose that the nuclear imaging technique should be taken into account even for an exploratory diagnosis of transthyretin cardiac amyloidosis. (biomedcentral.com)
Transthyretin Cardiac Amyloidosis: Underrecognized in the Underrepresented. (cdc.gov)
Over the past decade, transthyretin cardiac amyloidosis (ATTR-CM) has rapidly emerged as an increasingly diagnosed cause of heart failure (HF) among older adults, predominantly those with HF with preserved ejection fraction. (cdc.gov)
Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study. (cdc.gov)
The most common forms of cardiac amyloidosis are immunoglobulin light chain amyloidosis (AL-CM) and transthyretin amyloidosis (ATTR-CM) . (medscape.com)
Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. (medscape.com)
Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? (medscape.com)

Variants (also called mutations) in the TTR gene cause transthyretin amyloidosis. (medlineplus.gov)
The testing involved deletions, variants, or mutations in the genetic coding for peripheral myelin protein (PMP22) and transthyretin (TTR). (cdc.gov)
More than 120 mutations have been reported in the transthyretin gene with considerable phenotypic heterogeneity and geographic diversity. (biomedcentral.com)
Diagnosis can be made using genetic testing to identify mutations in the TTR gene, but may include other corroborative investigation. (wikipedia.org)
TTR itself is innately amyloidogenic even without the presence of genetic mutations. (scientiacme.org)
The familial variant of the disease is passed to offspring through autosomal dominant inheritance, whereas the wild type variant occurs independently of genetic mutations. (scientiacme.org)
Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretin-related familial amyloidosis. (medscape.com)
To achieve this team engineered mutations into key functional residues of A3G-BE, creating a series of variants. (biotechscope.com)

The TTR gene provides instructions for making a protein called transthyretin. (medlineplus.gov)
To transport thyroxine, four transthyretin proteins must attach (bind) to each other to form a four-protein unit (tetramer). (medlineplus.gov)
To transport retinol, transthyretin must form a tetramer and bind to another protein called retinol-binding protein. (medlineplus.gov)
Transthyretin is produced primarily in the liver, and a small amount of this protein is produced in an area of the brain called the choroid plexus and in the light-sensitive tissue that lines the back of the eye (the retina). (medlineplus.gov)
Nearly all of these variants change one protein building block (amino acid) in the transthyretin protein. (medlineplus.gov)
The most common variant found in people with transthyretin amyloidosis replaces the amino acid valine with the amino acid methionine at position 50 in the transthyretin protein (written as Val50Met or V50M). (medlineplus.gov)
Another common variant replaces the amino acid valine with the amino acid isoleucine at position 142 in the transthyretin protein (written as Val142Ile or V142I). (medlineplus.gov)
for reasons that are unclear, the transthyretin protein begins to form protein deposits. (medlineplus.gov)
ATTR Amyloidosis is caused by the accumulation of a genetically variant form or even the normal form of the protein, transthyretin, into amyloid fibrils. (medicine-opera.com)
Most typically, these afflicted individuals have a genetic variant of the transthyretin protein which they were born with and passed down from their mother or father. (medicine-opera.com)
Although the V122I (valine to isoleucine substitution at position 122 of the transthyretin protein) variant associated with hereditary ATTR-CM is present in 3.4% of self-identified Black individuals in the United States (or 1.5?million people), the phenotypic penetrance is not known. (cdc.gov)
FAP is characterized by the systemic deposition of amyloidogenic variants of the transthyretin protein, especially in the peripheral nervous system, causing a progressive sensory and motor polyneuropathy. (wikipedia.org)
The transthyretin protein is a tetramer. (wikipedia.org)
Researchers reported mild adverse events and decreases in serum misfolded transthyretin protein concentrations through targeted knockout. (wikipedia.org)
Transthyretin (TTR) is actually a protein present in human plasma as well as in cerebrospinal fluid. (projectsparadise.com)
Developing predictive models of multi-protein genetic systems to understand and optimize their behavior remains a combinatorial challenge, particularly when measurement throughput is limited. (omictools.com)
Transthyretin amyloidosis occurs when TTR protein molecules fold into the wrong shape and coagulate. (newsdol.com)
In a second study, published October 23 online ahead of print by the journal Chemistry and Biology , Wiseman and his team asked if ATF6 activation could be similarly used to reduce secretion and aggregation of transthyretin-a protein that aggregates in association with other systemic amyloid diseases referred to as the transthyretin amyloidoses. (scripps.edu)
Instead, the company will keep its focus on its pipeline of new candidates, led by ALN-TTR02, which comprises siRNAs that inhibit expression of the protein transthyretin that is mutated in ATTR. (genomeweb.com)
This summer, Alnylam reported positive data from a phase I trial showing that the drug triggered up to 94 percent reductions in levels of transthyretin after a single dose - a key milestone given the close link between the disease and levels of the protein ( GSN 7/19/2012 ). (genomeweb.com)
The "A" refers to amyloid, the "TTR" refers to transthyretin, which is the misfolded protein, and the little "v" stands for "variant" because patients with this condition have a hereditary variant of the gene for making TTR proteins. (rarerevolutionmagazine.com)

Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry. (cdc.gov)
Does the rare variant genetic architecture of dilated cardiomyopathy differ between patients of African and European ancestry? (cdc.gov)
In this cross-sectional study of 1198 patients with dilated cardiomyopathy, significantly fewer patients of African ancestry (8.2%) than those European ancestry (25.5%) had variants classified as pathogenic or likely pathogenic, a difference due in part to fewer predicted loss-of-function variants and less case-based evidence to support pathogenicity for variants found only in patients of African ancestry. (cdc.gov)
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure (HF) among patients =60?years of age. (cdc.gov)
In May 2019, the FDA approved two tafamidis preparations for the treatment of transthyretin-mediated cardiomyopathy, but has not approved it for the treatment of transthyretin familial amyloid polyneuropathy. (wikipedia.org)
CAMBRIDGE, Mass.--( BUSINESS WIRE )-- Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, today announced that the U.S. Food and Drug Administration (FDA) has set a date of September 13, 2023 for the meeting of the Cardiovascular and Renal Drugs Advisory Committee to review the supplemental New Drug Application for patisiran, an investigational treatment for the cardiomyopathy of transthyretin-mediated (ATTR) amyloidosis. (businesswire.com)
BridgeBio will also announce at R&D Day preclinical gene therapy programs targeting tuberous sclerosis, cystinuria, and a genetic dilated cardiomyopathy, as well as collaborations to identify and characterize next generation capsids with tropism for the central nervous system and kidney. (bridgebio.com)
U.S. FDA Approves VYNDAQEL® and VYNDAMAX™ for use in Patients with Transthyretin Amyloid Cardiomyopathy, a Rare and Fatal Disease. (medscape.com)
Patients and families benefit when the genetic etiology of cardiomyopathy is elucidated through a multidisciplinary approach including genetic counseling and judicious use of genetic testing. (ambrygen.com)
In this presentation, Dr. Kontorovich will discuss techniques to optimize the yield of genetic testing in the work-up for patients and families with cardiomyopathy, the concerns around potential overinterpretation of variants of uncertain significance and the impact of confirmatory genetic results with a special focus on genotypes that dictate personalized approaches to treatment. (ambrygen.com)

Transthyretin and familial amyloidotic polyneuropathy. (medlineplus.gov)
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade's disease, is an autosomal dominant neurodegenerative disease. (wikipedia.org)
The medication tafamidis has been approved for the treatment of transthyretin familial amyloid polyneuropathy in Europe. (wikipedia.org)
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant genetic disease, and the major component of the amyloid fibrils from FAP patients was shown to be variants of transthyretin (TTR) with single amino acid substitutions. (elsevierpure.com)
ONPATTRO is indicated for the treatment of the polyneuropathy of hereditary transthyretin-mediated amyloidosis in adults. (businesswire.com)
Ando Y, Nakamura M, Araki S. Transthyretin-related familial amyloidotic polyneuropathy. (medscape.com)
Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? (medscape.com)
Familial amyloidotic polyneuropathy (FAP) is a hereditary amyloidosis caused by mutated transthyretin (TTR) and inherited in an autosomal dominant fashion. (ectrx.org)

Familial Transthyretin Amyloidosis. (exploremyplan.com)

Orthopaedic manifestations of wild-type transthyretin amyloidosis are frequent and characteristic, including idiopathic bilateral carpal tunnel syndrome, idiopathic lumbar canal stenosis, atraumatic rupture of the brachial biceps tendon, and, more rarely, finger disease and rotator cuff. (mdpi.com)

This test is indicated for those with clinical suspicion of Amyloidogenic transthyretin amyloidosis or with a positive family history of the disease, to confirm the diagnosis or to know the personal genetic and transmission risk. (dantelabs.com)
6,7 More than 90 amyloidogenic TTR (ATTR) variants leading to FAP, of which the Val30Met mutation is the most common. (ectrx.org)

Tafamidis, a transthyretin stabilizer, was started. (biomedcentral.com)
In late 2011, the European Medicines Agency approved the transthyretin kinetic stabilizer Tafamidis or Vyndaqel discovered by Jeffery W. Kelly and developed by FoldRx pharmaceuticals (acquired by Pfizer in 2010) for the treatment of FAP based on clinical trial data. (wikipedia.org)
Must not be used in combination with other transthyretin (TTR) reducing agents (e.g., inotersen, tafamidis, etc. (exploremyplan.com)
Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. (medscape.com)

Patients with suspected amyloid should undergo screening for monoclonal light chains, and if negative, bone scintigraphy should be performed to confirm the presence of transthyretin amyloid. (acc.org)
Genetic testing is recommended in patients with transthyretin amyloid to differentiate hereditary variant from wild type. (acc.org)
Tafamadis is recommended in select patients with wild-type or variant transthyretin amyloid to reduce cardiovascular morbidity and mortality (Class of Recommendation 1a). (acc.org)
Alnylam Act® is a sponsored, no-charge, third-party genetic testing and counseling program for patients with a family history or suspected diagnosis of hereditary ATTR (hATTR) amyloidosis, acute hepatic porphyria, or primary hyperoxaluria type 1. (alnylam.com)
More patients are presenting with symptoms of heart failure who are not found to have a variant transthyretin gene. (medicine-opera.com)
Physical examination findings in patients with ATTR depend on the organ involved, which is affected by the presence and genetic identity of a TTR variant. (medscape.com)
Making a genetic diagnosis can inform the management of patients and their at-risk relatives and, as such, molecular genetic testing is now considered an integral component of the clinical care pathway. (cdc.gov)
Among seven TTR variants related to FAP, all the FAP patients tested in Japan had the particular 30 Val → Met mutation. (elsevierpure.com)
I clearly remember those first conversations with patients with hereditary/variant ATTR (hATTR or ATTRv) amyloidosis and their family members in 2008, when I took up the post of lead nurse at the UK National Amyloidosis Centre. (pagesuite.com)
Thus, although the TTR V30M mutation is required for the disease in Portuguese patients, different genetic factors may govern the age of onset, as well as the occurrence of anticipation. (psu.edu)
will be injected into the bloodstream In this trial, six patients had a rare and life-threatening condition known as Transthyretin amyloidosis is treated only once with gene editing therapy. (newsdol.com)
BridgeBio has more than 30 programs in its pipeline for patients living with genetic diseases and genetically-driven cancers. (bridgebio.com)
Atrial Fibrillation and Central Nervous Complications in Liver Transplanted Hereditary Transthyretin Amyloidosis Patients. (medscape.com)
2015). Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis . (up.pt)

Clinical descriptions of HSAN are somewhat inconsistent, possibly as result of reports lacking molecular genetic confirmation of the diagnosis. (amedes-genetics.de)
The diagnosis of FAP was made based on clinical symptoms, histologic amyloid deposition, and genetic testing. (ectrx.org)

hATTR amyloidosis is an autosomal dominant disease, meaning it can be inherited from one parent, and is caused by a variant in the transthyretin (TTR) gene. (alnylam.com)
There are two different types of ATTR amyloidosis - Hereditary ATTR (hATTR) amyloidosis, caused by a TTR gene variant, and Wild-type ATTR (wtATTR) amyloidosis, which occurs without a TTR gene variant. (businesswire.com)

In some older adults, deposits of normal transthyretin proteins cause a condition called senile systemic amyloidosis. (medlineplus.gov)
Serum transthyretin levels in senile systemic amyloidosis: effects of age, gender and ethnicity. (medlineplus.gov)
Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. (medscape.com)

The pathogenesis of TTR-CA is linked to the deposition of monomers of transthyretin (previously known as prealbumin) in the cardiac extracellular space. (biomedcentral.com)
Transthyretin amyloidosis is a systemic disorder caused by extracellular deposition of insoluble amyloid fibrils in peripheral and autonomic nerves, heart, kidney, gastrointestinal tract, and other organs. (biomedcentral.com)
Transthyretin amyloidosis (ATTR) is a progressive, multisystem, life-threatening disorder characterized by the extracellular deposition of misfolded, insoluble amyloid fibrils. (scientiacme.org)

To determine if oculoleptomeningeal amyloidosis is caused by a mutation in transthyretin (prealbumin). (nih.gov)
Definition of molecular abnormality in transthyretin (prealbumin). (medscape.com)

Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). (medscape.com)

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. (exploremyplan.com)
ONPATTRO is an intravenously administered RNAi therapeutic targeting transthyretin (TTR). (businesswire.com)

In this kindred, oculoleptomeningeal amyloidosis is related to a mutation in transthyretin (Phe64Ser). (nih.gov)
Genetic analysis demonstrated a transthyretin C70T (Pro24Ser) heterozygous mutation. (biomedcentral.com)

Partitioning conformational intermediates between competing refolding and aggregation pathways: insights into transthyretin amyloid disease. (medlineplus.gov)
PH1 is a progressive genetic disease that is potentially life-threatening and often presents with calcium oxalate kidney stones. (alnylam.com)
Transthyretin amyloidosis, also called ATTR amyloidosis , is a progressive and fatal disease that affects multiple organs. (medicine-opera.com)
August 5, 2022 - Mount Sinai researchers have achieved an unprecedented understanding of the genetic and molecular machinery in human microglia-immune cells that reside in the brain-that could provide valuable insights into how they contribute to the development and progression of Alzheimer's disease (AD). (mssm.edu)
February 3, 2022 - Previous studies of a genetic on/off switch may have been confounded by contamination, but Mount Sinai scientists have created a new tool for accurately determining whether it plays a role in human disease. (mssm.edu)
Hereditary transthyretin amyloidosis is an autosomal dominant disease. (biomedcentral.com)
Because of the development of effective disease-modifying therapies, such as transthyretin stabilizers, early and accurate identification of ATTR-CM is essential. (cdc.gov)
If one particular person in a couple has a genetic disease, they may need to take a look at to see if the other associate carries the same gene. (usppharm.com)
Familial hypercholesterolemia (FH) is a genetic disorder that increases the likelihood of having coronary heart disease at a younger age. (ctgt.net)
Transthyretin-mediated (ATTR) amyloidosis is a rare, rapidly progressive, debilitating disease caused by misfolded transthyretin (TTR) proteins which accumulate as amyloid fibrils in multiple tissues including the nerves, heart, and gastrointestinal (GI) tract. (businesswire.com)
Importantly, the data also indicate that genetic interactions among the multiple loci evaluated, rather than single-locus effects, are more likely to determine differences in the age of disease onset. (psu.edu)
Using a similar approach, the Wiseman lab showed that ATF6 activation reduced the secretion and extracellular aggregation of disease-associated transthyretin variants. (scripps.edu)
and ALN-AS1, which is designed to silence the enzyme ALAS-1 to treat the rare genetic disease acute intermittent porphyria and expected to move into phase I in 2014. (genomeweb.com)
To answer this the team used the CBE variants to correct 3 disease model cell lines harbouring the disease-relevant sequence for hereditary pyropoikilocytosis, cystic fibrosis, and holocarboxylase synthetase deficiency. (biotechscope.com)
Genetic variants associated with Lp(a) lipoprotein level and coronary disease. (nature.com)
Regarded as an expert in hereditary cardiovascular disease, Dr. Kontorovich has served as an invited speaker and panelist on the topics of genetic testing for cardiovascular disease and genetic cardiomyopathies and arteriopathies at numerous regional, national and international meetings. (ambrygen.com)
For patient education information, see the Brain and Nervous System Center, as well as Mad Cow Disease and Variant Creutzfeldt-Jakob Disease. (medscape.com)

As a result, the tetramers break down into individual transthyretin proteins, which attach to each other to form strands called fibrils. (medlineplus.gov)
The gene variant results in misfolded TTR proteins, which accumulate as amyloid deposits in multiple sites in the body including the nerves, heart, and gastrointestinal (GI) tract. (alnylam.com)
The crucial ingredient in each injection is mRNA, short-lived strands of genetic material that prompt our cells to start making SARS-CoV-2 proteins, which in turn help our immune systems develop antibodies that prevent future infections. (acs.org)

The serum transthyretin levels also fell dramatically. (medicine-opera.com)

Other genetic disorders are more challenging to determine as a result of they are linked to multiple genes. (usppharm.com)
HSAN5 shows clear clinical overlap with HSAN4 and is caused by pathogenic variants either in the NGF or NTRK1 genes. (amedes-genetics.de)

However, ICAs are characterised by high genetic and allelic heterogeneity, incomplete / age-related penetrance, and variable expressivity. (cdc.gov)

HSAN3 (familial dysautonomia, Riley-Day syndrome) is caused by pathogenic variants in ELP1 and is inherited in an autosomal recessive manner. (amedes-genetics.de)
HSAN4 as congenital insensitivity to pain with anhidrosis results from pathogenic variants in NTRK1. (amedes-genetics.de)
CBEs are important genetic tools and could potentially correct more than 5,000 pathogenic single-nucleotide polymorphisms (SNPs) associated with human-inherited diseases. (biotechscope.com)
The A3G-BEs had higher targeting precision than BE4max for reversing pathogenic SNPs for all three diseases and in the case of holocarboxylase synthetase deficiency, one A3G-BEs variant perfectly corrected only the target C nucleotide in more than 50% of the sequences, with up to a 6,496-fold higher correction frequencies than BE4max. (biotechscope.com)

We then combined the search algorithm with system-level kinetic modeling, requiring the construction and characterization of 73 variants to build a sequence-expression-activity map (SEAMAP) for a biosynthesis pathway. (omictools.com)

The team combines unique scientific and clinical expertise, in a synergistic effort to promote translational research, from the study of upstream genetic events to downstream pathophysiological consequences, and ultimately to the development of new therapeutic tools. (ern-euro-nmd.eu)
Off-targeting edits are a concern for any potential therapeutic tool, and whole-genome off-target characterisation for the most active A3G-BE variant showed that it induced minimum DNA off-target SNVs across the genome while maintaining highly efficient and selective editing at the on-target position. (biotechscope.com)

The fibrils clump together and form amyloid deposits in certain tissues, leading to the signs and symptoms of transthyretin amyloidosis. (medlineplus.gov)
AHP is a family of rare genetic diseases characterized by potentially life-threatening attacks, and for some people, chronic debilitating symptoms that negatively impact daily function and quality of life. (alnylam.com)
For example, the V122I variant, previously thought to affect only the heart, is now known to be associated with nerve involvement in some people too, and often the nerve problems can show up many years before the heart symptoms appear. (pagesuite.com)
Not only can the symptoms of organ dysfunction start and evolve differently in different individuals with the same genetic variant, but this variability can exist even within families. (pagesuite.com)

Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr. (medscape.com)

The paper describes the 12-month results of administering patisiran, an RNA interference agent that inhibits the production of hepatic transthyretin. (medicine-opera.com)

Because certain genetic issues similar to cystic fibrosis are associated to having a particular single gene, testing for that gene may help inform the right medical course of action. (usppharm.com)
The team chose to create models for cystic fibrosis, hypertonic myopathy, and transthyretin amyloidosis. (biotechscope.com)

PALO ALTO, Calif. , Oct. 12, 2021 /PRNewswire/ -- BridgeBio Pharma, Inc. (Nasdaq: BBIO), a commercial-stage biopharmaceutical company that focuses on genetic diseases and cancers, is announcing meaningful progress in its KRAS cancer portfolio, new programs in gene therapy, and advancements in cardiorenal and early-stage Mendelian programs at its second annual R&D Day today. (bridgebio.com)
Her research centers on identifying novel genetic factors underlying cardiovascular diseases including myocarditis, cardiomyopathies and aortopathies as well as studying the natural history, penetrance and prevalence of hereditary transthyretin amyloidosis. (ambrygen.com)

Estimates of genetic distance indicated that the controls and the classical-onset group were furthest apart, whereas the late-onset group appeared to differ from both. (psu.edu)
Multifactor dimensionality reduction indicated that the best genetic model for classical onset group versus controls involved the APCS gene, whereas for late-onset cases, one APCS variant (APCSv1) and two RBP variants (RBPv1 and RBPv2) are involved. (psu.edu)

In 2018, the U.S. Food and Drug Administration approved two drugs to treat transthyretin amyloidosis, both of which reduce TTR production by targeting the encoded messenger RNA. (newsdol.com)

Transthyretin is primarily made within the liver. (medicine-opera.com)

This variant is seen most commonly in the Portuguese and Swedish populations, although it is found in affected people worldwide. (medlineplus.gov)

The molecular genetic diagnostic yield differs greatly between HSAN groups or is mostly unknown. (amedes-genetics.de)

Assessment of the scientific basis for genetic testing of railroad workers with carpal tunnel syndrome. (cdc.gov)
In 2000, approximately 20 railroad track workers who filed injury reports or compensation claims for carpal tunnel syndrome were tested by their employer for two genetic traits to determine the work relatedness of the condition. (cdc.gov)

Other areas such as the Appalachian mountain region in the United States have a higher incidence of affected people because of a common genetic variant in the population there. (medicine-opera.com)
A substitution of 30th valine by methionine (Val30Met) is the most common genetic variant found in endemic areas in Portugal, Sweden, and Japan [ 2 ]. (biomedcentral.com)

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum. (biocrucesbizkaia.org)

Inherited cardiomyopathies and arrhythmias (ICAs) are a prevalent and clinically heterogeneous group of genetic disorders that are associated with increased risk of sudden cardiac death and heart failure. (cdc.gov)

What are the possible complications of transthyretin-related amyloidosis (ATTR)? (medscape.com)

The genetic form of the condition affects about 50,000 people worldwide. (newsdol.com)

Anatomy1

Diseases5

Chemicals and Drugs5

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Phenomena and Processes7

Health Care2

Cardiac Amyloidosis12

Mutations8

Protein21

Cardiomyopathy10

Polyneuropathy8

Familial Transthyretin Amyloidosis1

Wild-type transthyretin1

Amyloidogenic2

Tafamidis4

Patients14

Diagnosis2

HATTR2

Senile systemic am3

Deposition3

Prealbumin2

Systemic1

RNAi Therapeutic2

Mutation2

Disease17

Proteins3

Serum1

Genes2

Heterogeneity1

Pathogenic4

Kinetic1

Therapeutic2

Symptoms4

Leptomeningeal1

Patisiran1

Cystic fibrosis2

Diseases2

Late-onset2

20181

Primarily1

Portuguese1

Molecular genetic1

Carpal tunnel2

Common genetic variant2

Clinical1

Cardiomyopathies1

Complications1

50,000 people worldwide1