SLC2A1 Gene | ScienceGate

Introduction: SLC2A1 polymorphism may play a role in the smooth muscle cell proliferation and extracellular matrix synthesis in vessels. However, the role of SLC2A1 polymorphism on diabetic cardiovascular disease (CVD) have not yet been identified. In this study, we aimed to investigate the association between SLC2A1 HaeIII polymorphism and CVD in Korean patients with type 2 diabetes mellitus (T2DM) according to disease duration. Methods: A total of 846 patients with T2DM who visited the Chungbuk National University Hospital were investigated. The HaeIII polymorphism of SLC2A1 gene was determined by real time polymerase chain reaction method. Genotyping results were presented GG, AG, or AA. Subgroup analysis was performed according to duration of T2DM (⩽10, 11–20, >20 years). Results: The AA genotype was significantly associated with higher prevalence of CVD in patients with DM duration less than 10 years (26.3% vs 9.2%, p = 0.014). There was no significant association between SLC2A1 HaeIII polymorphism and other diabetic complications including, retinopathy, nephropathy, neuropathy, cerebrovascular disease, and peripheral artery disease. Conclusions: The SLC2A1 HaeIII polymorphism was associated with CVD in Korean patients with T2DM with short disease duration.

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Associations between the HaeIII Single Nucleotide Polymorphism in the SLC2A1 Gene and Diabetic Nephropathy in Korean Patients with Type 2 Diabetes Mellitus

Journal of Korean Medical Science ◽

10.3346/jkms.2019.34.e171 ◽

2019 ◽

Vol 34 (24) ◽

Author(s):

Dong-Hwa Lee ◽

Gun Woo Won ◽

Yong Hee Lee ◽

Eu Jeong Ku ◽

Tae Keun Oh ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 2 Diabetes ◽

Single Nucleotide Polymorphism ◽

Type 2 Diabetes Mellitus ◽

Diabetic Nephropathy ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Korean Patients ◽

Slc2a1 Gene

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A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood

Cephalalgia ◽

10.1177/0333102414532379 ◽

2014 ◽

Vol 35 (1) ◽

pp. 10-15 ◽

Cited By ~ 16

Author(s):

Claudia M Weller ◽

Wilhelmina G Leen ◽

Brian GR Neville ◽

John S Duncan ◽

Boukje de Vries ◽

...

Keyword(s):

De Novo ◽

The Other ◽

Brain Disorders ◽

Complex Phenotype ◽

Hemiplegic Migraine ◽

Alternating Hemiplegia Of Childhood ◽

Genetic Overlap ◽

Slc2a1 Gene ◽

Small Set

Background Hemiplegic migraine (HM) and alternating hemiplegia of childhood (AHC) are rare episodic neurological brain disorders with partial clinical and genetic overlap. Recently, ATP1A3 mutations were shown to account for the majority of AHC patients. In addition, a mutation in the SLC2A1 gene was reported in a patient with atypical AHC. We therefore investigated whether mutations in these genes may also be involved in HM. Furthermore, we studied the role of SLC2A1 mutations in a small set of AHC patients without ATP1A3 mutations. Methods We screened 42 HM patients (21 familial and 21 sporadic patients) for ATP1A3 and SLC2A1 mutations. In addition, four typical AHC patients and one atypical patient with overlapping symptoms of both disorders were screened for SLC2A1 mutations. Results A pathogenic de novo SLC2A1 mutation (p.Gly18Arg) was found in the atypical patient with overlapping symptoms of AHC and hemiplegic migraine. No mutations were found in the HM and the other AHC patients. Conclusion Screening for a mutation in the SLC2A1 gene should be considered in patients with a complex phenotype with overlapping symptoms of hemiplegic migraine and AHC.

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Glucose Transporter 1 deficiency and associated conditions in children

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) ◽

10.21508/1027-4065-2019-64-5-155-158 ◽

2019 ◽

Vol 64 (5) ◽

pp. 155-158

Author(s):

R. G. Gamirova ◽

Z. Afawi ◽

R. R. Gamirova ◽

E. A. Gorobets ◽

V. F. Prusakov ◽

...

Keyword(s):

Glucose Transporter ◽

Early Stage ◽

Pathological Condition ◽

Clinical Manifestations ◽

Deficiency Syndrome ◽

Psychomotor Retardation ◽

Type I ◽

Effective Treatment Option ◽

Glucose Transporter 1 ◽

Slc2a1 Gene

The article reviews literature devoted to the glucose transporter type I deficiency syndrome (synonyms: GLUT1 deficiency syndrome, de Vivo disease), that is a genetically determined disease caused by pathogenic variants of the SLC2A1 gene. The insufficiency of this protein leads to the disruption of glucose delivery to the brain through the blood-brain barrier. Clinically, the syndrome is manifested by epileptic seizures (mainly as absences or myoclonic seizures), various motor disorders and psychomotor retardation starting from the early age.Early diagnosis (including molecular genetic analysis of the SLC2A1 gene) enables us to start treatment and prevent progression of the symptoms, and to provide the family with genetic consultation on the prognosis and risks for the next generations. Ketogenic diet is an effective treatment option for this pathological condition, it can lead to a regression of the clinical manifestations, especially on the early stage.

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A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review

Frontiers in Neurology ◽

10.3389/fneur.2020.549331 ◽

2021 ◽

Vol 11 ◽

Author(s):

Miaomiao Yu ◽

Jing Miao ◽

Yudan Lv ◽

Xue Wang ◽

Wuqiong Zhang ◽

...

Keyword(s):

Lumbar Puncture ◽

Glucose Concentration ◽

Glucose Transporter ◽

Deficiency Syndrome ◽

Gene Analysis ◽

Intracranial Infection ◽

Slc2a1 Gene ◽

Low Glucose ◽

Exercise Induced ◽

Wbc Count

Glucose transporter type 1 deficiency syndrome (Glut1-DS) is a rare neurometabolic disorder caused by mutations of the SLC2A1 gene. Paroxysmal exercise-induced dyskinesia is regarded as a representative symptom of Glut1-DS. Paroxysmal non-kinesigenic dyskinesia is usually caused by aberrations of the MR1 and KCNMA1 genes, but it also appears in Glut1-DS. We herein document a patient with Glut1-DS who suffered first from paroxysmal exercise-induced dyskinesia and subsequently paroxysmal non-kinesigenic dyskinesia and experienced a recent worsening of symptoms accompanied with a low fever. The lumbar puncture result showed a decreased glucose concentration and increased white blood cell (WBC) count in cerebrospinal fluid (CSF). The exacerbated symptoms were initially suspected to be caused by intracranial infection due to a mild fever of <38.0°C, decreased CSF glucose, and increased CSF WBC count. However, the second lumbar puncture result indicated a decreased glucose concentration and normal WBC count in CSF with no anti-infective agents, and the patient's symptoms were not relieved apparently. The continuous low glucose concentration attracted our attention, and gene analysis was performed. According to the gene analysis result, the patient was diagnosed with Glut1-DS finally. This case indicates that the complex paroxysmal dyskinesia in Glut1-DS may be confusing and pose challenges for accurate diagnosis. Except intracranial infection, Glut1-DS should be considered as a differential diagnosis upon detection of a low CSF glucose concentration and dyskinesia. The case presented here may encourage clinicians to be mindful of this atypical manifestation of Glut1-DS in order to avoid misdiagnosis.

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