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3. Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1is associated with a phenotype of oculopharyngodistal myopathy

Author

Gu, Xinyu, Yu, Jiaxi, Jiao, Kexin, Deng, Jianwen, Xia, Xingyu, Qiao, Kai, Yue, Dongyue, Gao, Mingshi, Zhao, Chongbo, Dong, Jihong, Huang, Gongchun, Shan, Jingli, Yan, Chuanzhu, Di, Li, Da, Yuwei, Zhu, Wenhua, Xi, Jianying, and Wang, Zhaoxia

Abstract

BackgroundOculopharyngodistal myopathy (OPDM) is a rare adult-onset neuromuscular disease, associated with CGG repeat expansions in the 5′ untranslated region of LRP12, GIPC1, NOTCH2NLCand RILPL1. However, the genetic cause of a proportion of pathoclinically confirmed cases remains unknown.MethodsA total of 26 OPDM patients with unknown genetic cause(s) from 4 tertiary referral hospitals were included in this study. Clinical data and laboratory findings were collected. Muscle samples were observed by histological and immunofluorescent staining. Long-read sequencing was initially conducted in six patients with OPDM. Repeat-primed PCR was used to screen the CGG repeat expansions in LOC642361/NUTM2B-AS1in all 26 patients.ResultsWe identified CGG repeat expansion in the non-coding transcripts of LOC642361/NUTM2B-AS1in another two unrelated Chinese cases with typical pathoclinical features of OPDM. The repeat expansion was more than 70 times in the patients but less than 40 times in the normal controls. Both patients showed no leucoencephalopathy but one showed mild cognitive impairment detected by Montreal Cognitive Assessment. Rimmed vacuoles and p62-positive intranuclear inclusions (INIs) were identified in muscle pathology, and colocalisation of CGG RNA foci with p62 was also found in the INIs of patient-derived fibroblasts.ConclusionsWe identified another two unrelated cases with CGG repeat expansion in the long non-coding RNA of the LOC642361/NUTM2B-AS1gene, presenting with a phenotype of OPDM. Our cases broadened the recognised phenotypic spectrum and pathogenesis in the disease associated with CGG repeat expansion in LOC642361/NUTM2B-AS1.

Published
2024
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4. Response to Eura et al.

Author

Yu, Jiaxi, primary, Shan, Jingli, additional, Yu, Meng, additional, Di, Li, additional, Xie, Zhiying, additional, Zhang, Wei, additional, Lv, He, additional, Meng, LingChao, additional, Zheng, Yiming, additional, Zhao, Yawen, additional, Gang, Qiang, additional, Guo, Xueyu, additional, Wang, Yang, additional, Xi, Jianying, additional, Zhu, Wenhua, additional, Da, Yuwei, additional, Hong, Daojun, additional, Yuan, Yun, additional, Yan, Chuanzhu, additional, Wang, Zhaoxia, additional, and Deng, Jianwen, additional

Published
2022
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6. The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

Author

Yu, Jiaxi, primary, Shan, Jingli, additional, Yu, Meng, additional, Di, Li, additional, Xie, Zhiying, additional, Zhang, Wei, additional, Lv, He, additional, Meng, Lingchao, additional, Zheng, Yiming, additional, Zhao, Yawen, additional, Gang, Qiang, additional, Guo, Xueyu, additional, Wang, Yang, additional, Xi, Jianying, additional, Zhu, Wenhua, additional, Da, Yuwei, additional, Hong, Daojun, additional, Yuan, Yun, additional, Yan, Chuanzhu, additional, Wang, Zhaoxia, additional, and Deng, Jianwen, additional

Published
2022
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9. The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

Author

Yu, Jiaxi, primary, Deng, Jianwen, additional, Guo, Xueyu, additional, Shan, Jingli, additional, Luan, Xinghua, additional, Cao, Li, additional, Zhao, Juan, additional, Yu, Meng, additional, Zhang, Wei, additional, Lv, He, additional, Xie, Zhiying, additional, Meng, LingChao, additional, Zheng, Yiming, additional, Zhao, Yawen, additional, Gang, Qiang, additional, Wang, Qingqing, additional, Liu, Jing, additional, Zhu, Min, additional, Zhou, Binbin, additional, Li, Pidong, additional, Liu, Yinzhe, additional, Wang, Yang, additional, Yan, Chuanzhu, additional, Hong, Daojun, additional, Yuan, Yun, additional, and Wang, Zhaoxia, additional

Published
2021
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11. Congenital muscular dystrophies in China

Author

Ge, Lin, primary, Zhang, Cheng, additional, Wang, Zhaoxia, additional, Chan, Sophelia H.S., additional, Zhu, Wenhua, additional, Han, Chunxi, additional, Zhang, Xiaoli, additional, Zheng, Hong, additional, Wu, Liwen, additional, Jin, Bo, additional, Shan, Jingli, additional, Mao, Bing, additional, Zhong, Jianmin, additional, Peng, Xiaoyin, additional, Cheng, Yaying, additional, Hu, Jun, additional, Sun, Yan, additional, Lu, Junlan, additional, Hua, Ying, additional, Zhu, Sainan, additional, Wei, Cuijie, additional, Wang, Shuo, additional, Jiao, Hui, additional, Yang, Haipo, additional, Fu, Xiaona, additional, Fan, Yanbin, additional, Chang, Xingzhi, additional, Wang, Shuang, additional, Bao, Xinhua, additional, Zhang, Yuehua, additional, Wang, Jingmin, additional, Wu, Ye, additional, Jiang, Yuwu, additional, Yuan, Yun, additional, Rutkowski, Anne, additional, Bönnemann, Carsten G., additional, Wei, Wei, additional, Wu, Xiru, additional, and Xiong, Hui, additional

Published
2019
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12. ETFDHMutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin‐Responsive Multiple Acyl–CoenzymeADehydrogenation Deficiency

Author

Xu, Jingwen, primary, Li, Duoling, additional, Lv, Jingwei, additional, Xu, Xuebi, additional, Wen, Bing, additional, Lin, Pengfei, additional, Liu, Fuchen, additional, Ji, Kunqian, additional, Shan, Jingli, additional, Li, Honghao, additional, Li, Wei, additional, Zhao, Yuying, additional, Zhao, Dandan, additional, Pok, Joo Y., additional, and Yan, Chuanzhu, additional

Published
2018
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13. Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report

Author

Zhang, Bin, Zhao,Yuying, Liu,Junling, Li,Ling, Shan,Jingli, Zhao,Dandan, and Yan,Chuanzhu

Subjects
Neuropsychiatric Disease and Treatment
Abstract

Bin Zhang,1,2,* Yuying Zhao,1,3,* Junling Liu,1,4 Ling Li,1 Jingli Shan,1 Dandan Zhao,1 Chuanzhu Yan1,3 1Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, 2Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, 3Department of Neurology, Qilu Hospital of Shandong University, Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute, Shandong University, Jinan, Shandong, 4Department of Neurology, Affiliated Hospital of Weifang Medical University, Weifang, Shandong, People’s Republic of China *These authors contributed equally tothis work Abstract: Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affected in some patients. Herein, we report a case of a female, adolescent-onset Pompe patient, who was diagnosed with complicated intracranial aneurysm in adulthood. Keywords: Pompe disease, glycogen storage disease II, acid maltase, acid alpha-glucosidase, cerebrovascular disorders

Published
2016

14. ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.

Author

Xu, Jingwen, Li, Duoling, Lv, Jingwei, Xu, Xuebi, Wen, Bing, Lin, Pengfei, Liu, Fuchen, Ji, Kunqian, Shan, Jingli, Li, Honghao, Li, Wei, Zhao, Yuying, Zhao, Dandan, Pok, Joo Y., and Yan, Chuanzhu

Subjects
ADENINE nucleotides, VITAMIN B2, NEURODEGENERATION, GENE expression, GENETIC mutation
Abstract

Objective: Riboflavin-responsive multiple acyl-coenzyme A dehydrogenation deficiency (RR-MADD) is an inherited fatty acid metabolism disorder mainly caused by genetic defects in electron transfer flavoprotein-ubiquinone oxidoreductase (ETF:QO). The variant ETF:QO protein folding deficiency, which can be corrected by therapeutic dosage of riboflavin supplement, has been identified in HEK-293 cells and is believed to be the molecular mechanism of this disease. To verify this hypothesis in vivo, we generated Etfdh (h)A84T knockin (KI) mice.Methods: Tissues from these mice as well as muscle biopsies and fibroblasts from 7 RR-MADD patients were used to examine the flavin adenine dinucleotide (FAD) concentration and ETF:QO protein amount.Results: All of the homozygous KI mice (Etfdh (h)A84T/(h)A84T , KI/KI) were initially normal. After being given a high-fat and vitamin B2 -deficient (HF-B2 D) diet for 5 weeks, they developed weight loss, movement ability defects, lipid storage in muscle and liver, and elevated serum acyl-carnitine levels, which are clinically and biochemically similar to RR-MADD patients. Both ETF:QO protein and FAD concentrations were significantly decreased in tissues of HF-B2 D-KI/KI mice and in cultured fibroblasts from RR-MADD patients. After riboflavin treatment, ETF:QO protein increased in proportion to elevated FAD concentrations, but not related to mRNA levels. These results were further confirmed in cultured fibroblasts from RR-MADD patients.Interpretation: For the first time, we successfully developed a RR-MADD mice model and confirmed that FAD homeostasis disturbances played a crucial role on the pathomechanism of RR-MADD in this mouse model and culture cells from patients. Supplementation of riboflavin may stabilize variant ETF:QO protein by rebuilding FAD homeostasis. Ann Neurol 2018;84:667-681. [ABSTRACT FROM AUTHOR]

Published
2018
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15. Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report

Author

Zhang,Bin, Zhao,Yuying, Liu,Junling, Li,Ling, Shan,Jingli, Zhao,Dandan, Yan,Chuanzhu, Zhang,Bin, Zhao,Yuying, Liu,Junling, Li,Ling, Shan,Jingli, Zhao,Dandan, and Yan,Chuanzhu

Abstract

Bin Zhang,1,2,* Yuying Zhao,1,3,* Junling Liu,1,4 Ling Li,1 Jingli Shan,1 Dandan Zhao,1 Chuanzhu Yan1,3 1Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, 2Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, 3Department of Neurology, Qilu Hospital of Shandong University, Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute, Shandong University, Jinan, Shandong, 4Department of Neurology, Affiliated Hospital of Weifang Medical University, Weifang, Shandong, People’s Republic of China *These authors contributed equally to this work Abstract: Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affected in some patients. Herein, we report a case of a female, adolescent-onset Pompe patient, who was diagnosed with complicated intracranial aneurysm in adulthood. Keywords: Pompe disease, glycogen storage disease II, acid maltase, acid alpha-glucosidase, cerebrovascular disorders

Published
2016

16. Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation

Author

Emilia Gatto, Hiroshi Doi, Alfonso Fasano, Alisdair McNeill, Emilio Gonzalez Pablos, Robert Fekete, Shan Jingli, Alberto Piperno, Maria Teresa Pellechia, Alexander Lehn, Kunihiro Yoshida, Dorota Dziewulska, Roberto Erro, Juan G. Zarruk, Anette Schrag, Farzad Fatehi, Hiroaki Miyajima, Yih-ru Wu, Dziewulska, D, Doi, H, Fasano, A, Erro, R, Fatehi, F, Fekete, R, Gatto, E, Pablos, E, Lehn, A, Miyajima, H, Piperno, A, Pellechia, M, Wu, Y, Yoshida, K, Zarruk, J, Jingli, S, Schrag, A, and Mcneill, A

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Iron, disorders, aceruloplasminemia, Pathology and Forensic Medicine, brain iron accumulation, olfactory impairment, neurodegenerative, Olfaction Disorders, Cellular and Molecular Neuroscience, Glial Fibrillary Acidic Protein, Humans, Medicine, Aceruloplasminemia, Aged, Aged, 80 and over, Glial fibrillary acidic protein, biology, business.industry, Brain, Neurodegenerative Diseases, Middle Aged, medicine.disease, Clinical neurology, Case-Control Studies, Ferritins, biology.protein, Female, Neurology (clinical), OLFACTORY IMPAIRMENT, business
Published
2013

20. Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.

Author

Gu X, Yu J, Jiao K, Deng J, Xia X, Qiao K, Yue D, Gao M, Zhao C, Dong J, Huang G, Shan J, Yan C, Di L, Da Y, Zhu W, Xi J, and Wang Z

Subjects
Adult, Humans, Phenotype, Intranuclear Inclusion Bodies genetics, Trinucleotide Repeat Expansion genetics, Muscular Dystrophies genetics
Abstract

Background: Oculopharyngodistal myopathy (OPDM) is a rare adult-onset neuromuscular disease, associated with CGG repeat expansions in the 5' untranslated region of LRP12 , GIPC1 , NOTCH2NLC and RILPL1 . However, the genetic cause of a proportion of pathoclinically confirmed cases remains unknown., Methods: A total of 26 OPDM patients with unknown genetic cause(s) from 4 tertiary referral hospitals were included in this study. Clinical data and laboratory findings were collected. Muscle samples were observed by histological and immunofluorescent staining. Long-read sequencing was initially conducted in six patients with OPDM. Repeat-primed PCR was used to screen the CGG repeat expansions in LOC642361/NUTM2B-AS1 in all 26 patients., Results: We identified CGG repeat expansion in the non-coding transcripts of LOC642361/NUTM2B-AS1 in another two unrelated Chinese cases with typical pathoclinical features of OPDM. The repeat expansion was more than 70 times in the patients but less than 40 times in the normal controls. Both patients showed no leucoencephalopathy but one showed mild cognitive impairment detected by Montreal Cognitive Assessment. Rimmed vacuoles and p62-positive intranuclear inclusions (INIs) were identified in muscle pathology, and colocalisation of CGG RNA foci with p62 was also found in the INIs of patient-derived fibroblasts., Conclusions: We identified another two unrelated cases with CGG repeat expansion in the long non-coding RNA of the LOC642361/NUTM2B-AS1 gene, presenting with a phenotype of OPDM. Our cases broadened the recognised phenotypic spectrum and pathogenesis in the disease associated with CGG repeat expansion in LOC642361/NUTM2B-AS1 ., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2024
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