Bioresorbable bioelectronics, with their natural degradation properties, hold significant potential to eliminate the need for surgical removal. Despite notable achievements, two major challenges hinder practical application in medical settings. First, they necessitate sustainable energy solutions biodegradable components via biosafe powering mechanisms. More importantly, reliability function is undermined by unpredictable device lifetimes due complex polymer kinetics. Here, we propose an...

<h3>Objective:</h3> To identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family. <h3>Methods:</h3> We enrolled 14 members a Korean family in which 3 individuals had CMT4B phenotype and obtained distal sural nerve biopsies from all affected participants. conducted exome sequencing on 6 samples (3 unaffected individuals). <h3>Results:</h3> One pair heterozygous missense mutations SET binding factor 1 (<i>SBF1</i>) gene (22q13.33),...

Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration muscles in the extremities loss sensory function. Over 70 genes have been reported as genetic causatives number is still growing. We prepared targeted gene panel for IPN diagnosis based on next generation sequencing (NGS). The was designed to detect mutations 73 be causes or related neuropathies,...

Abstract Self‐powered electrical bandages (SEBs), integrated with wearable energy harvesters, can provide an effective and autonomous stimulation (ES) solution for rapid scarless wound healing. A continuously operating, wireless, applicable‐to‐comprehensive‐wound ES device is essential the quick restoration of wounds convenience. This work illustrates a SEB powered by body‐coupled harvesting. The treats 60‐Hz sinusoidal potential gained from coupling human body ambient waves. It demonstrated...

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of peripheral neuropathies with diverse genetic causes. In this study, we identified p.I43N mutation in PMP2 from family exhibiting autosomal dominant demyelinating CMT neuropathy by whole exome sequencing and characterized the clinical features. The age at onset was first to second decades muscle atrophy started distal portion leg. Predominant fatty replacement anterior lateral compartment similar that CMT1A caused PMP22...

Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. CMT type 1A (CMT1A) accounts for approximately 50% of patients and linked to PMP22 gene duplication. Histone deacetylase-6 (HDAC6) has pleiotropic effects, such as regulating lipid homeostasis cellular stress. Although HDAC6 been regarded a promising drug target neurodegenerative diseases, its inhibition not yet tested in CMT1A. Here we have therapeutic potential CKD-504, clinical stage inhibitor, mouse...

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and a genetically clinically heterogeneous disorder. We examined Korean family in which two individuals had an autosomal-dominant axonal CMT with early-onset, sensory ataxia, tremor, slow progression. Pedigree analysis exome sequencing identified de novo missense mutation (p.Y223H) diacylglycerol O-acyltransferase 2 (DGAT2) gene. DGAT2 encodes endoplasmic reticulum-mitochondrial-associated membrane protein,...

Abstract Charcot‐Marie‐Tooth disease type 2D (CMT2D), is a hereditary peripheral neuropathy caused by mutations in the gene encoding glycyl‐tRNA synthetase ( GARS1 ). Here, human induced pluripotent stem cell (hiPSC)‐based models of CMT2D bearing and their use for identification predictive biomarkers amenable to therapeutic efficacy screening described. Cultures containing spinal cord motor neurons generated from this line exhibit network activity marked significant deficiencies spontaneous...

Abstract Variable copy number variations (CNVs) in the short arm of chromosome 17 are associated with many neurodevelopmental disorders, including Charcot–Marie–Tooth disease type 1A, Potocki–Lupski syndrome and Yuan–Harel–Lupski syndrome. Here we examined CNVs two sporadic cases developmental abnormalities, brain impairment peripheral neuropathy. We identified novel duplications approximately 14.1 Mb at 17p11.2–p13.1 (containing PMP22 RAI1 ) 17.6 17p11.2–p13.3 ( YWHAE , PAFAH1B each...

ABSTRACT Background and Aims The SLC5A6 gene encodes a transmembrane protein responsible for transporting biotin, pantothenic acid, lipoic acid. Mutations in have shown wide spectrum of clinical phenotypes, such as sodium‐dependent multivitamin transporter deficiency (SMVTD), childhood‐onset biotin‐responsive peripheral motor neuropathy (COMNB), mixed axonal demyelinating sensory neuropathy. purpose this study was to identify pathogenic mutations the Korean CMT cohort. Methods This performed...

X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is caused by mutations in the gene encoding phosphoribosyl pyrophosphate synthetase I (PRPS1). There has been only one case report of CMTX5 patients. The aim this study was to identify causative a family with CMTX peripheral neuropathy and deafness.A Korean recessive CMT enrolled. age at onset hearing loss male proband months, that steppage gait 6 years; he underwent cochlear surgery 12 years. In contrast what reported for first patients...

Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by prominent impairment, resulting in foot ulcers or amputations has a juvenile to adult onset. The major underlying causes of HSAN are mutations SPTLC1, which encodes the first subunit serine palmitoyltransferase (SPT). To date, there have been no reports with regard patient Korean origin. In this report we discussed missense mutation SPTLC1 (c.992C>T: p.S331F). had noticed frequent...

Abstract Objective Myelinated Schwann cells (SCs) in adult peripheral nerves dedifferentiate into immature demyelinating neuropathies and Wallerian degeneration. This plastic SC change is actively involved the myelin destruction clearance as SCs (DSCs). In inherited neuropathy, pathologically differentiated dysmyelinated constitute main nerve pathology. Methods We investigated whether this status human neuropathic could be determined by patient sera to develop disease‐relevant serum...

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies and both genetically clinically heterogeneous, with variable inheritance modes. With regard to clinical genetic aspects, CMT divided into several subtypes, including CMT1, CMT2, CMT3, CMT4, CMT5, CMT6, X-linked CMT, intermediate CMT. Up date, more than 90 causative genes for have been identified. Furthermore, previous animal studies reported some molecules therapeutic effects on specific depending underlying...

Abstract Whole-genome sequencing is the most comprehensive form of next-generation method. We aimed to assess additional diagnostic yield whole-genome in patients with clinically diagnosed Charcot–Marie–Tooth disease when compared whole-exome sequencing, which has not been reported literature. was performed on 72 families whose genetic cause revealed after and 17p12 duplication screening. Among included families, 14 (19.4%) acquired diagnoses that were compatible their phenotypes. The common...

Abstract Charcot–Marie–Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Mutations in neurofilament light polypeptide ( NEFL ) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. From 2005 to 2020, 1,143 Korean CMT families underwent sequencing, we investigated clinical, genetic, neuroimaging spectra of ‐related patients. Ten mutations 17 (1.49%) were identified, which three (p.L312P,...

Abstract Mutations in the Microrchidia CW-type zinc finger 2 (MORC2) GHKL ATPase module cause a broad range of neuropathies, such as Charcot-Marie-Tooth disease type 2Z; however, aetiology and therapeutic strategy are not fully understood. Previously, we reported that Morc2a p.S87L mouse model exhibited neuropathy muscular dysfunction through DNA damage accumulation. In present study, analysed gene expression mice designated primary causing factor. We investigated pathological pathway using...

Mutations in the inverted formin-2 (INF2) gene were recently identified patients with autosomal dominant intermediate Charcot-Marie-Tooth (DI-CMT) disease and focal segmental glomerulosclerosis (FSGS). Here, we a novel p.L132P INF2 mutation Korean family DI-CMT FSGS by whole-exome sequencing. This was cosegregated affected individuals not found 300 controls. The two members exhibited juvenile onset sensorimotor polyneuropathy FSGS. Nerve conduction studies showed an range of motor nerve...

Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and sclerosis‑frontotemporal dementia. However, since first dHMN7B patient with a DCTN1 mutation was described 2003, best of our knowledge no further cases reported. In present study, p.G59S identified two unrelated families from total 24 Korean dHMN, by whole exome...

Background and purpose Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) are known to cause Charcot-Marie-Tooth disease (CMT). These mutations very rare most countries, but not certain Mediterranean countries. The of this study was identify clinical neuroimaging characteristics Korean CMT patients with GDAP1 mutations. Methods Gene sequencing applied 1,143 families whom had been diagnosed from 2005 2020. PMP22 duplication found 344 families, whole-exome...

Abstract Mutations in INF2 are associated with the complex symptoms of Charcot‐Marie‐Tooth disease (CMT) and focal segmental glomerulosclerosis (FSGS). To date, more than 100 30 genes have been reported to cause these disorders, respectively. This study aimed identify mutations Korean patients CMT. was conducted 743 families CMT who were negative for PMP22 duplication. In addition, a family FSGS included this study. screened using whole exome sequencing (WES) filtering processes. As results,...