2025-12-25 | Correction to “Syndrome of the Month: ARSK ‐Related Mucopolysaccharidosis Type 10”
Al Fahdi, I., S. Singh, K. Yadavalli, K. Chatti, G. S. Bhavani, and K. M. Girisha. 2025. “Syndrome of the Month: ARSK-Related Mucopolysaccharidosis Type 10.” American Journal of Medical Genetics Part A 197, no. 12: e64210. https://doi.org/10.1002/ajmg.a.64210. The originally published article was published without “Syndrome of the Month:” at the beginning of the title. This has been corrected in the online version of the article. We apologize for this error.
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2024-03-28 | Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Mucopolysaccharidosis: Cross-Sectional Prospective Study
Objective: To compare the oxidative stress status between the patients with mucopolysaccharidosis who received and did not receive enzyme replacement therapy and healthy control group. Material and Methods: A retrospective study of mucopolysaccharidosis patients with analysis of the total oxidant and antioxidant capacity levels. Results: We included 29 mucopolysaccharidosis patients aged between 1-18 years and 50 healthy children. Total antioxidant capacity and total oxidant capacity parameters between this patients and healthy control group were compared. The median age of the patients who were included in the study was 9.0 years and the median age of the cases included in the control group was 8.0 years. Total antioxidant capacity, total oxidant capacity and Oxidative Stress Index (OSI) values did not differ significantly in patients receiving enzyme replacement therapy compared to patients who did not receive enzyme replacement therapy. A comparison of the oxidant and antioxidant system parameters between the patient and control groups revealed a distinct difference, with the control group exhibiting a considerably higher total antioxidant capacity than mucopolysaccharidosis patients, and the patient group showing a significantly higher total oxidant capacity and OSI. Conclusion: In this study, it was observed that the antioxidant defence system decreased in patients with mucopolysaccharidoses. It is thought that, in addition to standard treatments, the administration of antioxidant treatments and supporting nutrition in mucopolysaccharidosis patients will increase the quality of life of the patients. Regular sleep, eating healthy foods and doing regular exercise would also increase the effectiveness of these supplements.
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2024-02-09 | REMOVER-PITCh: microhomology-assisted long-range gene replacement with highly multiplexed CRISPR-Cas9
A variety of CRISPR-Cas9-based gene editing technologies have been developed, including gene insertion and gene replacement, and applied to the study and treatment of diseases. While numerous studies have been conducted to improve the efficiency of gene insertion and to expand the system in various ways, there have been relatively few reports on gene replacement technology; therefore, further improvements are still needed in this context. Here, we developed the REMOVER-PITCh system to establish an efficient long-range gene replacement method and demonstrated its utility at two genomic loci in human cultured cells. REMOVER-PITCh depends on microhomology-assisted gene insertion technology called PITCh with highly multiplexed CRISPR-Cas9. First, we achieved gene replacement of about 20-kb GUSB locus using this system. Second, by applying the previously established knock-in-enhancing platform, the LoAD system, along with REMOVER-PITCh, we achieved the replacement of a longer gene region of about 200 kb at the ARSB locus. Our REMOVER-PITCh system will make it possible to remove and incorporate a variety of sequences from and into the genome, respectively, which will facilitate the generation of various disease and humanized models.
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