AI Article Synopsis

  • This study investigated the connection between inherited genetic variants linked to Charcot-Marie-Tooth disease and sensitivity to peripheral neuropathy caused by the chemotherapy drug paclitaxel.
  • The researchers sequenced specific genes in patients who received paclitaxel and identified eight potential genetic factors related to neuropathy risk.
  • The findings suggest that the variant rs7833751, linked to another variant rs7001034, may reduce sensitivity to paclitaxel-induced neuropathy, indicating its potential for personalizing treatment to minimize this side effect.

Article Abstract

This study explored whether inherited variants in genes causing the hereditary neuropathy condition Charcot-Marie-Tooth disease are associated with sensitivity to paclitaxel-induced peripheral neuropathy (PN). Hereditary neuropathy genes previously associated with risk of paclitaxel-induced PN were sequenced in paclitaxel-treated patients. Eight putative genetic predictors in five hereditary neuropathy genes (, , ,  and ) were tested for association with PN sensitivity after accounting for systemic exposure and clinical variables. rs7833751, a proxy for rs7001034, decreased PN sensitivity (additive model, β = -0.41; 95% CI: -0.66 to -0.17; p = 0.0011). None of the other genetic predictors were associated with PN sensitivity. Our results support prior evidence that rs7001034 is protective of PN and may be useful for individualizing paclitaxel treatment to prevent PN.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444626PMC
http://dx.doi.org/10.2217/pgs-2020-0053DOI Listing

Publication Analysis

Top Keywords

hereditary neuropathy
12
sensitivity paclitaxel-induced
8
paclitaxel-induced peripheral
8
peripheral neuropathy
8
associated sensitivity
8
neuropathy genes
8
genetic predictors
8
sensitivity
5
neuropathy
5
genetic variation
4

Similar Publications

Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a neurodegenerative disease caused by mutations in the gene encoding transthyretin (TTR). Despite amyloid deposition being pathognomonic for diagnosis, this pathology in nervous tissues cannot fully account for nerve degeneration, implying additional pathophysiology for neurodegeneration, which, however, has not yet been fully elucidated. In this study, neuroinflammation in ATTRv-PN was investigated by examining nerve morphometry, the blood-nerve barrier, and macrophage infiltration in the sural nerves of ATTRv-PN patients and the sciatic nerves of a complementary mouse system, i.

View Article and Find Full Text PDF

Background: Speckles tracking echocardiography imaging enables clinicians to detect subtle systolic dysfunction. The aim of the present study was to elucidate the differences in speckle tracking echocardiographic findings between immunoglobulin light chain amyloid cardiomyopathy (AL-CM) and transthyretin amyloid cardiomyopathy (TTR-CM).

Methods: The patients with a confirmed diagnosis of cardiac amyloidosis through cardiac biopsy from March 2013 to October 2022 were included.

View Article and Find Full Text PDF

. Leber hereditary optic neuropathy (LHON) is a condition characterized by bilateral acute or subacute vision loss in seemingly healthy individuals. Depending on the disease stage and initial presentation, it is often diagnosed as optic neuritis.

View Article and Find Full Text PDF

The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant :m.15309T>C (Ile188Thr). We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up.

View Article and Find Full Text PDF

Small interfering RNA (siRNA) has shown promising results for the treatment of Charcot-Marie-Tooth disease 1A (CMT1A) caused by overexpression of peripheral myelin protein (PMP22), leading to myelin dysfunction and axonal damage. Recently, we developed siRNA PMP22-squalene (SQ) nanoparticles (NPs) for intravenous use. Three consecutive injections of siRNA PMP22-SQ NPs at a cumulative dose of 1.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!