A novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndrome.

Autor: Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Xie Y; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China., Lou X; Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310014, Zhejiang, China., Zeng X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China., Zhang L; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China., Yu M; Department of Neurology, Peking University First Hospital, Beijing, 100034, China., Wang J; Department of Pediatrics, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, Henan, China., Li J; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Shen D; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Li H; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China., Zhao S; Fujungenetics Technologies Co, Ltd, Beijing, 100176, China., Zhou Y; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China., Fang H; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China., Lyu J; Laboratory Medicine Center, Department of Clinical Laboratory, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, 310014, Zhejiang, China., Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, 100034, China., Wang Z; Department of Neurology, Peking University First Hospital, Beijing, 100034, China. drwangzx@163.com., Jin L; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China. liqinjin@126.com.; Department of Scientific Research, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China. liqinjin@126.com., Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. 13910150389@163.com.

Publikováno v: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2024 Oct 26; Vol. 299 (1), pp. 102. Date of Electronic Publication: 2024 Oct 26.

Altered Neurovascular Coupling in Patients With Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A Combined Resting-State fMRI and Arterial Spin Labeling Study.

Autor: Wang R; Department of Radiology, Huashan Hospital, Fudan University, Shanghai, China.; Institute of Functional and Molecular Medical Imaging, Fudan University, Shanghai, China., Liu X; Department of Radiology, Huashan Hospital, Fudan University, Shanghai, China.; Institute of Functional and Molecular Medical Imaging, Fudan University, Shanghai, China., Sun C; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China., Hu B; Department of Radiology, Huashan Hospital, Fudan University, Shanghai, China.; Institute of Functional and Molecular Medical Imaging, Fudan University, Shanghai, China., Yang L; Department of Radiology, Huashan Hospital, Fudan University, Shanghai, China.; Institute of Functional and Molecular Medical Imaging, Fudan University, Shanghai, China., Liu Y; Luhang High School, Shanghai, China., Geng D; Department of Radiology, Huashan Hospital, Fudan University, Shanghai, China.; Institute of Functional and Molecular Medical Imaging, Fudan University, Shanghai, China., Lin J; Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China., Li Y; Department of Radiology, Huashan Hospital, Fudan University, Shanghai, China.; Institute of Functional and Molecular Medical Imaging, Fudan University, Shanghai, China.

Publikováno v: Journal of magnetic resonance imaging : JMRI [J Magn Reson Imaging] 2024 Jul; Vol. 60 (1), pp. 327-336. Date of Electronic Publication: 2023 Oct 05.

Unraveling RNA Conformation Dynamics in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episode Syndrome with Solid-State Nanopores.

Autor: Namani S; Department of Physics and Astronomy, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States., Kavetsky K; Department of Materials Science and Engineering, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States., Lin CY; Department of Physics and Astronomy, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States., Maharjan S; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, United States., Gamper HB; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, United States., Li NS; Department of Biochemistry and Molecular Biology, University of Chicago, Chicago, Illinois 60637, United States., Piccirilli JA; Department of Biochemistry and Molecular Biology, and Department of Chemistry, University of Chicago, Chicago, Illinois 60637, United States., Hou YM; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, United States., Drndic M; Department of Physics and Astronomy, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.

Publikováno v: ACS nano [ACS Nano] 2024 Jul 02; Vol. 18 (26), pp. 17240-17250. Date of Electronic Publication: 2024 Jun 21.

T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.

Autor: Walker MA; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute and the Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Li S; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.; Translational Immunogenomics Laboratory, Dana-Farber Cancer Institute, Boston, Massachusetts, USA., Livak KJ; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.; Translational Immunogenomics Laboratory, Dana-Farber Cancer Institute, Boston, Massachusetts, USA., Karaa A; Department of Pediatrics, Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Wu CJ; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA., Mootha VK; Howard Hughes Medical Institute and the Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts, USA.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 757-765. Date of Electronic Publication: 2024 Mar 18.

Bilateral cochlear implants in a MELAS patient.

Autor: Sun YC; Department of Otolaryngology and Head Neck Surgery, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Audiology and Speech Language Pathology, MacKay Medical College, No. 46, Sec. 3, Zhongzheng Rd., Sanzhi Dist., New Taipei City, 252, Taiwan., Chou YP; Department of Otolaryngology and Head Neck Surgery, MacKay Memorial Hospital, Taipei, Taiwan., Ho PH; Department of Otolaryngology and Head Neck Surgery, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Audiology and Speech Language Pathology, MacKay Medical College, No. 46, Sec. 3, Zhongzheng Rd., Sanzhi Dist., New Taipei City, 252, Taiwan., Chen XX; Department of Otolaryngology and Head Neck Surgery, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Audiology and Speech Language Pathology, MacKay Medical College, No. 46, Sec. 3, Zhongzheng Rd., Sanzhi Dist., New Taipei City, 252, Taiwan., Chen PY; Department of Otolaryngology and Head Neck Surgery, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Audiology and Speech Language Pathology, MacKay Medical College, No. 46, Sec. 3, Zhongzheng Rd., Sanzhi Dist., New Taipei City, 252, Taiwan., Chu CH; Department of Otolaryngology and Head Neck Surgery, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Audiology and Speech Language Pathology, MacKay Medical College, No. 46, Sec. 3, Zhongzheng Rd., Sanzhi Dist., New Taipei City, 252, Taiwan., Lin HC; Department of Otolaryngology and Head Neck Surgery, MacKay Memorial Hospital, Taipei, Taiwan. hclin59@ms29.hinet.net.; Department of Audiology and Speech Language Pathology, MacKay Medical College, No. 46, Sec. 3, Zhongzheng Rd., Sanzhi Dist., New Taipei City, 252, Taiwan. hclin59@ms29.hinet.net.

Publikováno v: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery [Eur Arch Otorhinolaryngol] 2024 Jun; Vol. 281 (6), pp. 3265-3268. Date of Electronic Publication: 2024 Feb 26.