SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report.

BACKGROUND: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder of the nervous system commonly known as Fahr disease. IBGC patients with a genetic background are considered to have primary familial brain calcification (PFBC), also known as familial basal ganglia calcification (FBGC), or familial Fahr disease. It is a rare degenerative neurological disorder characterized by extensive bilateral basal ganglia calcification that can lead to a range of extrapyramidal symptoms and neuropsychiatric manifestations. Studies have suggested that more than 50 variants of SLC20A2 gene mutations account for approximately 50% of IBGC cases. There is a wide spectrum of mutation types, including frameshift, nonsense, and splice site mutations in addition to deletion and missense mutations. Here we report a case of familial basal ganglia calcification caused by a frameshift mutation in the SLC20A2 gene. We identified a heterozygous mutation in the SLC20A2 gene, c.1097delG (p.G366fs*89). To our knowledge, this mutation site has not been reported before. CASE PRESENTATION: A 57-year-old male patient was admitted to the hospital with "unstable walking and involuntary movements between the eyes and eyebrows for 6 months". Based on the patient's family history, symmetrical calcification foci in the bilateral caudate nucleus head, thalamus, cerebellum and parietal lobe indicated by head CT, and gene test results, the diagnosis of familial Fahr disease caused by mutations in the SLC20A2 gene, c.1097delG p.G366fs*89) was confirmed. CONCLUSION: For the first time, we identified c.1097delG (p.G366fs*89) as a frameshift mutation in the IBGC family. This frameshift mutation caused the condition in this family of patients. This mutation not only broadens the range of known SLC20A2 mutations but also aids in the genetic diagnosis of IBGC.

Meta-analysis of the effects of overexpression of WRKY transcription factors on plant responses to drought stress.

BACKGROUND: The tryptophan-arginine-lysine-tyrosine (WRKY) transcription factors play important roles in plants, allowing them to adapt to environmental conditions that are not normally conducive to plant growth; in particular, drought. There has been extensive research on WRKY transcription factors and the effects of their overexpression in plants on resistance to drought stress. However, due to the materials (the type and species of donor and receptor, promoters) and treatments (the type and time of stress) used, different and often confounding results have been obtained between studies. Meta-analysis is a powerful statistical tool that can be used to summarize results from numerous independent experiments on the same research topic while accounting for variability across experiments. RESULTS: We carried out a meta-analysis of 16 measured parameters that affect drought resistance in plants overexpressing WRKY transcription factors and wild-type plants. We found that only one of these parameters was significantly different between transgenic and wild-type plants under drought and control conditions at a 95% confidence interval (p = 0.000, p = 0.009, respectively). Eleven of the sixteen parameters were obviously different in WRKY transgenic plants under drought and control conditions (SV, p = 0.023, SSC, p = 0.000, SOD, p = 0.012, SFW, p = 0.000, RL, p = 0.016, Pro, p = 0.000, POD, p = 0.027, MDA, p = 0.000, H2O2, p = 0.003, EL, p = 0.000, CHC, p = 0.000, respectively), seven of the eleven obviously different parameters showed positive effect (SSC, SOD, Pro, POD, MDA, H2O2, EL), four of them revealed negative effect (SV, SFW, RL, CHC). CONCLUSION: We have found that only one of these parameters was significantly different between transgenic and wild-type plants under drought and control conditions respectively, at a 95% confidence interval. And eleven of sixteen parameters showed obviously different of WRKY-overexpressed plants under different conditions (water-stressed and normal), suggesting that WRKY transcription factors play an important role in plant responses to drought stress. These findings also provide a theoretical basis for further study of the role of WRKY transcription factors in the regulation of plant responses to environmental stress.