A5056035618- Amyloidosis: Diagnosis, Treatment, Outcomes
- Alzheimer's disease research and treatments
- Parathyroid Disorders and Treatments
- Cellular transport and secretion
- Dermatological and Skeletal Disorders
- Protein Kinase Regulation and GTPase Signaling
- Ion channel regulation and function
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Trace Elements in Health
- Pneumocystis jirovecii pneumonia detection and treatment
- Peptidase Inhibition and Analysis
- Intracerebral and Subarachnoid Hemorrhage Research
- Sarcoidosis and Beryllium Toxicity Research
- Medical Imaging and Pathology Studies
- Drug Transport and Resistance Mechanisms
- Cerebrovascular and genetic disorders
- Peripheral Neuropathies and Disorders
- Pancreatitis Pathology and Treatment
- Neuroendocrine Tumor Research Advances
- Hereditary Neurological Disorders
- Caveolin-1 and cellular processes
- Eosinophilic Disorders and Syndromes
- Prion Diseases and Protein Misfolding
- Neurogenetic and Muscular Disorders Research
- Drug Solubulity and Delivery Systems
Kumamoto University
2016-2025
Kumamoto University Hospital
2012-2024
Hudson Institute
2024
Osaka University Hospital
2024
Morpho (United States)
2017-2019
Shinshu University
2016-2017
Kagoshima University
2017
Nagoya University
2016
Neurology, Inc
2014
National Cerebral and Cardiovascular Center
2013
<h3>Objective:</h3> Familial amyloid polyneuropathy (FAP), which is a fatal disorder inherited in an autosomal dominant fashion, characterized by systemic accumulation of polymerized transthyretin (TTR) the peripheral nerves and organs. Liver transplantation has become accepted treatment this because it stops major production amyloidogenic TTR. However, improved survival transplant patients compared with that nontransplant not been sufficiently demonstrated. This study investigated whether...
Senile systemic amyloidosis is a common age-related that involves accumulation of wild-type transthyretin, with cardiac dysfunction being predominant result. The importance obtaining an accurate diagnosis senile has been increasingly recognized, so novel treatments are developed. However, the clinicopathological features remain to be completely understood. Here, we evaluated specimens from 181 consecutive post-mortem cases older than 40 years, including 6 amyloidosis, and 5 familial...
Amyloidosis is a protein conformational disorder with the distinctive feature of extracellular accumulation amyloid fibrils that come from different proteins. In ligamentum flavum lumbar spine, deposits were frequently found in elderly patients spinal canal stenosis and at least partially formed by wild-type transthyretin. However, how affect has remained unclear. this study, we analyzed clinical, pathologic, radiologic findings who had flavum. We studied 95 specimens obtained 56 21 19 disk...
<h3>Objective:</h3> To examine the morphology of Schwann cells and endoneurial microvessels with electron microscopy. <h3>Methods:</h3> Sural nerve biopsy specimens from 49 patients familial amyloid polyneuropathy (FAP) transthyretin Val30Met mutation were assessed. Patients included 11 early-onset cases endemic foci 38 late-onset nonendemic areas. <h3>Results:</h3> Loss fibers or without neighboring deposition was a common feature. The amount greater relative to extent fiber loss in than...
Mass spectrometric analyses are valuable for detection of transthyretin (TTR) variants, which cause familial amyloidotic polyneuropathy (FAP). However, those methods require an immunoprecipitation step with anti-TTR antibody and not suitable quantitative detection. We investigated the usefulness SELDI-TOF mass spectrometry (MS) without step.We used ProteinChips chromatographic capture formats to detect TTRs. attempted correlate intensity mixed samples amyloidogenic TTR (ATTR) V30M wild-type...
<h3>Objective</h3> To elucidate the long-term effects of liver transplantation (LT) on familial amyloid polyneuropathy (FAP). <h3>Methods</h3> We investigated clinicopathological and biochemical characteristics systemic tissues in four autopsied cases FAP patients surviving more than 10 years after LT seven without LT. For analysing truncated form transthyretin (TTR) amyloid, we also employed specimens from additional 18 patients. <h3>Results</h3> Several tissue sites such as heart, tongue...
<h3>Objective:</h3> To elucidate early skin denervation in hereditary transthyretin (TTR) amyloidosis and iatrogenic TTR amyloidosis. <h3>Methods:</h3> We investigated intraepidermal nerve fiber density (IENFD) clinical findings 32 patients with amyloidosis, 11 asymptomatic mutation carriers, 6 23 healthy volunteers. <h3>Results:</h3> IENFD values were reduced the V30M (1.9 ± 2.1 per 1 mm), non-V30M mutations (5.8 3.2 (3.5 1.8 mm) compared volunteers (11.8 (<i>p</i> < 0.01). Skin also...
Abstract Most intractable tissue‐degenerative disorders share a common pathogenic condition, so‐called proteinopathy. Amyloid‐related are the most proteinopathies and characterized by amyloid fibril deposits in brain or other organs. Aging is generally associated with development of these amyloid‐related disorders, but we still do not fully understand how functional proteins become during human aging process. We identified novel amyloidogenic protein, named epidermal growth factor‐containing...
Although transthyretin (TTR) is expressed in pancreatic alpha (glucagon) cells the islets of Langerhans, function TTR remains unknown. In this study, by using knockout (TTR KO) mice, we determined novel role glucose homeostasis. We demonstrated that KO mice evidenced impaired recovery blood and glucagon levels. Lack induced significantly lower levels Langerhans. These results suggest may play important roles homeostasis via regulating expression glucagon.
We report the case of a 37-year-old female who presented with asymmetric, distal muscle weakness in lower limbs, which had its onset childhood. Muscle biopsy revealed pathological changes consistent nemaline myopathy, and suspected biallelic variants nebulin (NEB) gene, NM_001271208.1:c.24684G>C p.(Ser8228Ser) c.23847+164A>G were identified. NEB-related myopathy typically presents symmetric, proximal-dominant atrophy. However, reports distal-dominant involvement are rare. This exhibited...
We report a case of dual amyloidosis with Alzheimer's disease and wild-type transthyretin (ATTRwt) amyloidosis. A 76-year-old man was referred for anti-amyloid-β therapy lecanemab. He also had symptoms congestive heart failure history carpal tunnel syndrome, cubital lumbar spinal stenosis; raising Technetium-99m pyrophosphate myocardial scintigraphy showed abnormal uptake, histopathologic examination revealed (TTR) amyloid deposition in both gastrointestinal biopsy specimens. Genetic testing...
Familial amyloidotic polyneuropathy (FAP) is characterized by extracellular deposition of amyloid fibrils caused a point mutation in the transthyretin (TTR) gene. Despite data from number vitro studies TTR amyloidogenesis, many questions, including where and how these form vivo what impact on tissues, remain unanswered. Here, we analysed relationship between fibril formation micro-environmental changes using autopsy cardiac tissues 11 patients with FAP smooth muscle cell line....
Localized insulin-derived amyloid masses occasionally form at the site of repeated insulin injections in patients with insulin-dependent diabetes and cause subcutaneous resistance. Various kinds including porcine insulin, human analogues reportedly formed fibrils vitro vivo, but impact amino acid replacement molecules on amyloidogenicity is largely unknown. In present study, we demonstrated difference fibril formation kinetics analogues, which suggests an important role C-terminal domain B...
Transthyretin (TTR)-related amyloidosis is a fatal disorder characterized by systemic extracellular deposition of TTR amyloid fibrils. Mutations in the gene cause an autosomal dominant form disease-familial amyloidotic polyneuropathy (FAP). Wild-type (WT) can also fibrils elderly patients with senile amyloidosis. Regression deposits FAP who undergo liver transplantation to remove main source mutant suggests existence mechanisms for clearance from matrix (ECM), but precise are largely...
Amyloidosis is a protein conformational disorder in which amyloid fibrils accumulate the extracellular space and induce organ dysfunction. Recently, two different amyloidogenic proteins, transthyretin (TTR) apolipoprotein A-I (Apo A-I), were identified deposits knee joints patients with osteoarthritis (OA). However, clinicopathological differences related to those kinds of joint remain be clarified. Here, we investigated features these associated OA biochemical characteristics deposits. We...
Domino liver transplantation (DLT) with grafts from patients hereditary transthyretin (TTR) amyloidosis has been performed throughout the world because of a severe graft shortage. Reports acquired systemic TTR in domino recipients have increasing; however, precise pathogenesis and clinical course remains unclear. We analyzed relationship between occurrence features 22 consecutive donors (10 males 12 females; mean age at DLT: 37.2 years; mutations: V30M [n = 19], Y114C 1], L55P S50I 1]) (16 6...
Insulin-derived amyloidoma, also called an insulin ball, is a skin-related complication of therapy caused by repeated injections at the same site, where native folded changes into amyloid fibrils and forms mass with granulomatous reaction. amyloidoma clinically important condition because its association subcutaneous resistance, but precise effect mechanism absorption impairment have not been clarified. We generated insulin-derived amyloidomas in mouse skin, large enough to perform tolerance...