RESUMEN
Misato Mitochondrial Distribution and Morphology Regulator 1 (MSTO1) is a soluble cytoplasmic protein that regulates mitochondrial dynamics by promoting mitochondrial fusion. Variants in the MSTO1 gene cause a rare disease characterized by early-onset myopathy and cerebellar ataxia, with almost 30 cases reported worldwide. Here we report a case of a 3-year-old boy with novel heterozygous variants of the MSTO1 gene (c.1A>G (p.M1?) and c.727G>C(p.Ala243Pro)). Sequencing data and subsequent validation show that the two variants were inherited from the mother and father of the patient (both were heterozygous). The clinical features are infancy-onset mental and motor retardation, language disorder, dysarthria, scoliosis, cerebellar atrophy, tremor, lower-extremity muscle weakness, elevated muscle enzymes, extensive myopathy with chronic atrophy, hyperventilation lungs, and previously unreported hairy back and enlarged gastrocnemius. Finally, novel heterozygous MSTO1 variants were discovered in this case, which expands the gene spectrum and clinical phenotype of this type of disease, and provides a new direction for future treatment and research. Then we summarize the mutational spectrum, pathological, clinical features and imaging of MSTO1 variants in a cohort of reported 31 patients and discuss the pathogenesis of MSTO1 in humans.
RESUMEN
BACKGROUND: Periodontitis can lead to the destruction of periodontium and adversely influence the overall health, wellbeing, and quality of life. However, studies on the relationship between severe periodontitis and serum 25-hydroxyvitamin D [25(OH)D] are limited. This study is designed to explore the relationship between 25(OH)D and severe periodontitis. METHODS: A cross-section study of 2928 participants enrolled from the National Health and Nutrition Examination Survey (NHANES) from 2013 to 2014 was conducted. The periodontal examination was performed using a total oral periodontal examination program, and probe measurements were collected at six sites per tooth in NHANES. Severe periodontitis was characterized as: ≥ 2 interproximal sites with attachment loss (AL) ≥ 6 mm (not on the same tooth) and ≥ 1 interproximal site with probing depth (PD) ≥ 5 mm. Severe periodontitis and serum 25(OH)D were the dependent and independent variables, respectively. Univariate, multivariate, and subgroup analyses were performed to explore the relationship between severe periodontitis and serum 25(OH)D. RESULTS: Among the 2928 participants, the average age of the population was 50 ± 13.71 years old, with 1425 (48.67%) males, 316 (10.79%) exhibited severe periodontitis. Serum 25(OH)D showed a significantly negative association with severe periodontitis after adjusting all variables (OR 0.75, 95% CI 0.63-0.89). In addition, severe periodontitis has a nonlinear relationship with serum 25(OH)D, whoes inflection point was 102 (nmol/L). On the left side of the inflection point (25(OH)D ≤ 102 nmol/L), the effect size was 0.98 and 95%CI was 0.98-0.99 (25(OH)D per 1 nmol/L increments). On the right side of the inflection point (25(OH)D > 102 nmol/L), the effect size was 0.99 and 95% CI was 0.98-1.01. The subgroup analysis showed pronounced changes in non-Hispanic white, alcohol consumption, diabetes, and health insurance. CONCLUSION: Serum 25 (OH) D in relation to severe periodontitis is nonlinear in our study.When serum 25 (OH) D is less than 102 nmol/L, serum 25 (OH) D is negatively associated with severe periodontitis.
