Diabetic foot ulcer (DFU) is a common and major manifestation in patients with diabetes. Oxidative stress (OS) plays an important role in diabetic complications, such as DFU. Nitric oxide deficiency contributes to the impairment of diabetic wound healing. The aim of this study was to examine the association between the eNOS Glu298Asp polymorphism and DFU and oxidative stress in patients with type 2 diabetes mellitus in an Iranian population. In this case-control study, 123 patients with type 2 diabetes and DFU and 134 patients without DFU were recruited. The genotypes of eNOS Glu298Asp polymorphism in exon 7 were determined by the polymerase chain reaction-restriction fragment length polymorphism analysis. We measured the levels of thiobarbituric reactive substances and ferric-reducing ability of plasma as the potential markers of OS. There were significant differences in genotype frequencies of eNOS Glu298Asp polymorphism between case and control groups (GG+TG vs. TT; p=0.002; OR=0.22, 95% CI 0.83 to 0.62). Also, the frequency of the T allele in cases was less common than in controls (p=0.004). There was no significant difference in levels of OS parameters and various genotypes (p>0.05). These results imply that the T allele might be protective against DFU.

Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenocortical failure. We report a 19-year-old girl, who was born in an Iranian Muslim family with a clinical diagnosis of APS-1. To identify the causative mutation, a direct sequencing of the entire AIRE gene sequence was performed by Sanger sequencing method. Three distinct variants were discovered, including c.1095 + 2 T > A, c.1197 T > C (rs1800521) and c.1578 T > C (rs1133779), in intron 9, exons 10 and 14 of the AIRE gene, respectively. To the best of our knowledge, this is the first report of an Iranian Muslim APS-1 patient with combination of these variations. In addition, the effect of c.1095 + 2 T > A mutation on AIRE mRNA expression was reported for the first time. This study expands the diversity of variants that could cause APS-1. More genetic studies are required to determine the exact frequency of these variants and their diagnostic significance.

The development and maintenance of the nervous system depend on a tightly regulated intracellular transport network in which kinesin superfamily (KIF) motor proteins drive microtubule-based delivery of synaptic vesicle precursors, organelles, mRNAs, and signaling components along axons and dendrites. Disruption of this machinery underlies a clinically heterogeneous spectrum of neurodevelopmental disorders (NDDs), including intellectual disability, epilepsy, autism spectrum disorder, microcephaly, malformations of cortical development, spasticity, and axonal neuropathy. Here, we synthesize current knowledge on how kinesin dysfunction shapes neurodevelopment. We outline the physiological roles of kinesins in neuronal polarity, organelle and mitochondrial positioning, synaptogenesis, and progenitor division, and survey principal disease-associated genes, including KIF1A, KIF5A, KIF7, KIF11, KIF2A, KIF5C, and emerging members such as KIF14, KIF15, and KIF16B. We detail how distinct pathogenic mechanisms, such as loss of motility, impaired cargo coupling, motor hyperactivity, mitotic spindle defects, and disrupted ciliary signaling, converge on shared cellular endpoints, and how tubulin isotypes and posttranslational modifications further modulate motor output. In this review, we discuss translational implications, including variant-resolved diagnosis and precision strategies to restore transport, dampen pathological hyperactivity, or stabilize the microtubule track. Collectively, these advances reframe kinesinopathies as mechanistically stratified disorders of neuronal transport.