Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy

Autor:	Milena Ślęczkowska, Rowida Almomani, Margherita Marchi, Erika Salvi, Bianca T A de Greef, Maurice Sopacua, Janneke G J Hoeijmakers, Patrick Lindsey, Stephen G Waxman, Giuseppe Lauria, Catharina G Faber, Hubert J M Smeets, Monique M Gerrits
Přispěvatelé:	RS: MHeNs - R3 - Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Toxicogenomics, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Specialisten (9)
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	Potassium Channels Peripheral neuropathy Neuralgia/genetics Small Fiber Neuropathy Ion Channels/genetics Anoctamins Neuropathic pain Ion Channels Catalysis Inorganic Chemistry Cohort Studies Diabetic Neuropathies Diabetic Neuropathies/genetics Small Fiber Neuropathy/genetics Humans Physical and Theoretical Chemistry Molecular Biology Spectroscopy idiopathic small fiber neuropathy ion channel MIPs-NGS neuropathic pain peripheral neuropathy Organic Chemistry General Medicine Computer Science Applications Neuralgia Potassium Channels/genetics Ion channel Idiopathic small fiber neuropathy
Zdroj:	International journal of molecular sciences, 23(22). Multidisciplinary Digital Publishing Institute (MDPI) International Journal of Molecular Sciences; Volume 23; Issue 22; Pages: 14095
ISSN:	1422-0067 1661-6596
Popis:	Neuropathic pain is a characteristic feature of small fiber neuropathy (SFN), which in 18% of the cases is caused by genetic variants in voltage-gated sodium ion channels. In this study, we assessed the role of fifteen other ion channels in neuropathic pain. Patients with SFN (n = 414) were analyzed for ANO1, ANO3, HCN1, KCNA2, KCNA4, KCNK18, KCNN1, KCNQ3, KCNQ5, KCNS1, TRPA1, TRPM8, TRPV1, TRPV3 and TRPV4 variants by single-molecule molecular inversion probes–next-generation sequencing. These patients did not have genetic variants in SCN3A, SCN7A-SCN11A and SCN1B-SCN4B. In twenty patients (20/414, 4.8%), a potentially pathogenic heterozygous variant was identified in an ion-channel gene (ICG). Variants were present in seven genes, for two patients (0.5%) in ANO3, one (0.2%) in KCNK18, two (0.5%) in KCNQ3, seven (1.7%) in TRPA1, three (0.7%) in TRPM8, three (0.7%) in TRPV1 and two (0.5%) in TRPV3. Variants in the TRP genes were the most frequent (n = 15, 3.6%), partly in patients with high mean maximal pain scores VAS = 9.65 ± 0.7 (n = 4). Patients with ICG variants reported more severe pain compared to patients without such variants (VAS = 9.36 ± 0.72 vs. VAS = 7.47 ± 2.37). This cohort study identified ICG variants in neuropathic pain in SFN, complementing previous findings of ICG variants in diabetic neuropathy. These data show that ICG variants are central in neuropathic pain of different etiologies and provides promising gene candidates for future research.
Databáze:	OpenAIRE
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