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Last update 08 May 2025

SLC22A5

Last update 08 May 2025

Basic Info

Synonyms

CDSP, High-affinity sodium-dependent carnitine cotransporter, OCTN2

+ [5]

Introduction

Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine (PubMed:10454528, PubMed:10525100, PubMed:10966938, PubMed:17509700, PubMed:20722056, PubMed:33124720). Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 11.3 (PubMed:10454528, PubMed:10525100, PubMed:10966938). In intestinal epithelia, transports the quorum-sensing pentapeptide CSF (competence and sporulation factor) from Bacillus Subtilis wich induces cytoprotective heat shock proteins contributing to intestinal homeostasis (PubMed:18005709). May also contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (Probable). Retained in the ER, unable to perform carnitine uptake.

Drugs associated with SLC22A5

Meldonium hydrate

Target

BBOX x SLC22A5

Mechanism

BBOX antagonists [+1]

Active Org.

Nanjing HUAXIN Biopharm. Co., Ltd.

[+2]

Originator Org.-

Active Indication

Alcoholism [+4]

Inactive Indication

Cerebrovascular Disorders

Drug Highest PhaseApproved

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with SLC22A5

CTIS2023-509804-14-00

/ Not yet recruitingPhase 4IIT

The role of meldonium and individualized physical activities in the treatment of patients with heart failure - MELD-PHYS-2023

Start Date27 Mar 2024

Sponsor / Collaborator-

NCT06648902

/ CompletedPhase 1/2IIT

A Phase 1/2 Study of the Safety and Preliminary Efficacy of Meldonium in Patients with Metastatic Renal Cell Carcinoma and Treatment-associated Fatigue.

Fatigue is a prevalent adverse event associated with systemic therapy using tyrosine kinase inhibitors (TKIs). Meldonium, a fatty acid oxidation inhibitor, modifies the carnitine pathway, a nutrient critical for fat metabolism. The World Anti-Doping Agency (WADA) classified meldonium as a banned substance due to its documented use by athletes aiming to enhance physical performance. In this study, the safety and preliminary efficacy of meldonium in treatment-related fatigue will be assessed.

Start Date01 Feb 2022

Sponsor / Collaborator-

CTR20140220

/ SuspendedPhase 3

评估标准加米屈肼治疗慢性缺血性心力衰竭患者有效性和安全性的双盲、随机、安慰剂平行对照、多中心临床研究

[Translation] A double-blind, randomized, placebo-controlled, multicenter clinical study to evaluate the efficacy and safety of standard plus meldonium in the treatment of patients with chronic ischemic heart failure

主要目标：评估标准治疗加米屈肼相比较于标准治疗加安慰剂治疗慢性缺血性心衰病人 (NYHA II- III 级）的疗效次要目标：评估米屈肼治疗慢性缺血性心衰病人的安全性

[Translation]

Primary objective: To evaluate the efficacy of meldonium plus standard therapy compared with standard therapy plus placebo in patients with chronic ischemic heart failure (NYHA class II-III) Secondary objective: To evaluate the safety of meldonium in patients with chronic ischemic heart failure

Start Date14 Jul 2014

Sponsor / Collaborator

Jsc Grindeks

[+1]

100 Clinical Results associated with SLC22A5

100 Translational Medicine associated with SLC22A5

0 Patents (Medical) associated with SLC22A5

695

Literatures (Medical) associated with SLC22A5

01 May 2025·JIMD Reports

Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report

Article

Author: Kashisaka, Mai ; Morisada, Naoya ; Matsumoto, Masaaki ; Nakai, Ryosuke ; Maruyama, Azusa ; Iketani, Kiiko ; Soma, Kento ; Kurosawa, Hiroshi ; Nishiyama, Masahiro ; Sakihama, Hiroshi ; Kobayashi, Hironori ; Saito, Tomoki ; Ueda, Takuya ; Ozaki, Kayo

ABSTRACTSystemic primary carnitine deficiency (SPCD) is a rare congenital fatty acid metabolism disorder causing impaired β‐oxidation and energy production, leading to hypoglycemia, metabolic encephalopathy, and sudden death. Early diagnosis and treatment, including L‐carnitine supplementation and fasting avoidance, can improve prognosis. However, newborn screening (NBS) criteria differ by region, and standardized guidelines are lacking. This report presents a case of SPCD undetected by NBS, resulting in basal ganglia damage and dystonia due to metabolic decompensation. A 1‐year‐9‐month‐old girl with no abnormalities on NBS presented with impaired consciousness. She exhibited hypoketotic hypoglycemia, hyperammonemia, and myocardial hypertrophy. Suspecting a fatty acid metabolism disorder, L‐carnitine and high‐calorie infusion were initiated. Laboratory tests revealed markedly low serum total and free carnitine levels, and genetic analysis confirmed a homozygous SLC22A5 mutation. Brain MRI on day 7 revealed bilateral basal ganglia and substantia nigra abnormalities. The patient developed severe dystonia and respiratory failure, requiring ECMO management. L‐DOPA was initiated on day 62, resulting in improvements in dystonia, swallowing, and motor function. By day 88, MRI showed resolution of basal ganglia abnormalities, though cerebral atrophy persisted. Basal ganglia damage is a rare but severe SPCD complication. L‐DOPA may alleviate dystonia by acting on dopaminergic neurons in the substantia nigra. Early ketone measurement during emergencies is crucial for diagnosing fatty acid metabolism disorders. A standardized NBS protocol with a defined carnitine cutoff value is essential for early detection and prevention of SPCD complications.

15 Apr 2025·Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

[Clinical application of next-generation sequencing in early screening of neonatal diseases].

Article

Author: Zhao, Zheng-Yan ; Wu, Ben-Qing ; Jiang, Li-Hong

OBJECTIVESTo evaluate the clinical value of next-generation sequencing (NGS) in neonatal disease screening, particularly its advantages when combined with tandem mass spectrometry (MS/MS).METHODSA prospective study was conducted involving blood samples from 1 999 neonates born at the Shenzhen Guangming District People's Hospital, between May and August 2021. All samples were initially screened using MS/MS and fluorescence immunoassay, followed by NGS to detect high-frequency variation sites in 135 related pathogenic genes. Suspected positive variants were validated using Sanger sequencing or multiplex ligation-dependent probe amplification in family studies.RESULTSNo confirmed positive cases were found in the MS/MS analysis of the 1 999 neonates. Genetic screening identified 58 positive cases (2.90%), 732 carriers of pathogenic genes (36.62%), and 1 209 negative cases (60.48%). One case of neonatal intrahepatic cholestasis was diagnosed (0.05%, 1/1 999). Fluorescence immunoassay identified 39 cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency (1.95%, 39/1 999), while genetic screening identified 43 cases of G6PD deficiency (2.15%, 43/1 999). The fluorescence immunoassay also detected 6 cases of hyperthyrotropinemia (0.30%, 6/1 999), all of whom carried DUOX2 gene variants. The top ten pathogenic gene carrier rates were G6PD (12.8%), DUOX2 (8.7%), HBB (8.2%), ATP7B (6.6%), GJB2 (5.7%), SLC26A4 (5.6%), PAH (5.6%), ACADSB (4.6%), SLC25A13 (4.2%), and SLC22A5 (4.1%).CONCLUSIONSNGS can serve as an effective complement to MS/MS, significantly improving the detection rate of inherited metabolic disorders in neonates. When combined with family validation, it enables precise diagnosis, particularly demonstrating complementary advantages in screening for monogenic diseases such as G6PD deficiency.

01 Feb 2025·Journal of Molecular Histology

OCTN2 expression and function in the Sertoli cells of testes from patients with non-obstructive azoospermia

Article

Author: Yang, Xinyan ; Xu, Xiaoheng ; Shi, Hua ; Zhu, Yongtong ; Huang, Yunchong ; Zhao, Shan-Chao ; Pan, Minjia ; Ma, Linzi ; Jiang, Nan ; Li, Dong

BACKGROUNDAmong couples, male factors account for approximately 50% of infertility cases, with nonobstructive azoospermia (NOA) representing one of the most clinically common and severe categories of male infertility, affecting approximately 10-15% of patients. Currently, L-carnitine is clinically used to improve spermatogenesis by regulating Sertoli cell function. Multiple clinical trials have described the efficacy of L-carnitine in treating NOA. Notably, Sertoli cells rely on organic carnitine transporter 2 (OCTN2) for carnitine transport. However, it remains unknown whether OCTN2 expression is involved in the pathological process of NOA.OBJECTIVETo investigate the expression and function of OCTN2 in Sertoli cells from patients with NOA.MATERIALS AND METHODSTen testicular tissue samples were collected, including five from a healthy group and five from a group of patients with NOA. Immunohistochemistry and immunofluorescence were used to detect the expression of OCTN2 in testicular tissue. Additionally, an Octn2-KO TM4 cell line (a mouse testicular Sertoli cell line) was constructed to explore the function of OCTN2 expression in Sertoli cells through transcriptomic sequencing, cell proliferation experiments, metabolomic analysis, and Western blot analysis.RESULTSCompared with those of the healthy group, the immunohistochemistry results revealed a significant decrease in OCTN2 expression in the Sertoli cells of the NOA group. Further investigation through cell proliferation experiments revealed a reduction in the proliferative capacity of the Octn2-KO TM4 cell line. Transcriptomic sequencing and metabolomic data analysis revealed a decrease in autophagy in the Octn2-KO TM4 cell line. Western blot analysis subsequently verified the expression levels of autophagy-related proteins.CONCLUSIONIn the Sertoli cells of NOA patients, decreased OCTN2 protein expression leads to decreased cell proliferation and autophagy abnormalities, which may play a crucial role in the spermatogenic dysfunction observed in NOA patients.

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SLC22A5

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