Article
Clinical Neurology
Martin Engvall, Aki Kawasaki, Valerio Carelli, Rolf Wibom, Helene Bruhn, Nicole Lesko, Florian A. Schober, Anna Wredenberg, Anna Wedell, Frank Traisk
Summary: Leber hereditary optic neuropathy (LHON) is a mitochondrial disease that causes severe bilateral visual loss, typically in young adults. This report discusses a mother and son with the typical LHON phenotype, but genetic investigations for the commonly found mutations were negative, revealing a new and previously unreported mutation in mitochondrial DNA. The new mutation, m.13345G>A, is located in the MT-ND5 gene, encoding a core subunit in complex I in the mitochondrial respiratory chain.
FRONTIERS IN NEUROLOGY
(2021)
Article
Neurosciences
Ge Wang, Yanli Wang, Chao Gao, Wanqin Xie
Summary: This study identified novel compound heterozygous variants in EMC1 in individuals with global developmental delay. Non-silent synonymous mutations should be considered in genetic analysis.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Chenelle A. Caron-Godon, Stefania Della Vecchia, Alessandro Romano, Stefano Doccini, Flavio Dal Canto, Rosa Pasquariello, Anna Rubegni, Roberta Battini, Filippo Maria Santorelli, D. Moira Glerum, Claudia Nesti
Summary: This study reports on a new patient with novel heterozygous variants in COX11, presenting with Leigh-like features. Through the use of yeast models and in vitro analysis, we validate the effects of these mutations on yeast growth, respiration, and cellular redox status, as well as their potential impact on human protein stability and function. This study expands the mutational landscape of COX11-associated mitochondrial disorders and highlights the importance of yeast models in dissecting complex molecular pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Lina Zhu, Fujun Peng, Zengwen Deng, Zhichun Feng, Xiuwei Ma
Summary: Pathogenic variants in the CHD2 gene exhibit a wide range of phenotypic variability in neurodevelopmental disorders. This study reports a Chinese patient with a novel CHD2 mutation, who presented with developmental delay, myoclonic epilepsy, and hypothyroidism. The study also summarizes the clinical manifestations and genotypes of 144 individuals with CHD2 variants associated with epileptic encephalopathy.
FRONTIERS IN GENETICS
(2022)
Article
Cardiac & Cardiovascular Systems
Zongbin Li, Chunwei Liu, Jun Guo, Yajun Shi, Yang Li, Jinli Wang, Shanshan Zhou, Yundai Chen
Summary: Acute exposure to hypobaric hypoxia can trigger acute mountain sickness (AMS). This study found that certain mitochondrial DNA mutations are associated with the development of AMS. Neutrophil percentage and oxygen saturation levels are independently associated with AMS.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Medicine, General & Internal
Ignazio Giuseppe Arena, Alessia Pugliese, Sara Volta, Antonio Toscano, Olimpia Musumeci
Summary: Mitochondrial disorders are common, inherited conditions characterized by defects in oxidative phosphorylation caused by mutations in nuclear or mitochondrial genes. Skeletal muscle is typically affected due to its high energy demand. Advances in next-generation sequencing techniques have improved diagnosis and identified new therapeutic targets. An increasing number of mutations have been found to be responsible for mitochondrial disorders.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Biology
Eugenia Borgione, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Francesco Domenico Di Blasi, Vincenzo Di Stefano, Antonino Lupica, Filippo Brighina, Rosa Pettinato, Corrado Romano, Carmela Scuderi
Summary: This article describes a novel homoplasmic m.7484A>G mutation in the tRNA(Ser(UCN)) gene, leading to profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, and typical clinical manifestations of MELAS syndrome in a girl. The same mutation was also found in the mother, causing mild cognitive deficit, cerebellar ataxia, myoclonic epilepsy, sensorineural hearing loss, and myopathy consistent with MERRF syndrome. This is the first anticodon mutation in the tRNA(Ser(UCN)) and the second homoplasmic mutation in the anticodon triplet reported to date.
Article
Pediatrics
Xuemei Zhao, Bingbing Wu, Huiyao Chen, Ping Zhang, Yanyan Qian, Xiaomin Peng, Xinran Dong, Yaqiong Wang, Gang Li, Chenbin Dong, Huijun Wang
Summary: This study reported a novel frameshift variant in the BCL11B gene in a Chinese boy with craniosynostosis and global developmental delay. The patient exhibited abnormal skull and brain development as observed in brain MRI and CT scans. This study expands the clinical phenotypes of patients with BCL11B gene mutation and provides guidance for clinical treatment and genetic counseling.
FRONTIERS IN PEDIATRICS
(2022)
Review
Medicine, General & Internal
Tina D. Jeppesen, Karen L. Madsen, Nanna S. Poulsen, Nicoline Lokken, John Vissing
Summary: Mutations in mtDNA disrupt energy production and cause varied symptoms. Exercise intolerance is a common symptom in mitochondrial myopathy, and exercise tests can be used for diagnosis and follow-up.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cell Biology
Iris Verbinnen, Sara S. S. Procknow, Lisa Lenaerts, Sara Reynhout, Aujan Mehregan, Chris Ulens, Veerle Janssens, Katherine A. A. King
Summary: PP2A-related (neuro) developmental disorders are genetic diseases caused by genetic alterations in the genes encoding subunits of type 2A protein phosphatases. This study reports a case of PPP2CA-affected individual with a novel de novo missense variant, and evaluates its pathogenicity. Clinically, the patient presented with developmental delay, dysmorphic facial features, seizures, and autistic behaviors. This study reveals a milder manifestation of clinical and molecular spectrum in PPP2CA cases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Genetics & Heredity
Siren Berland, Bjorn Ivar Haukanes, Petur Benedikt Juliusson, Gunnar Houge
Summary: This study reports on a boy with a mixture of Beckwith-Wiedemann syndrome (BWS) and IMAGe syndrome, along with additional features of developmental delay and microcephaly. The researchers identified a variant in the CDKN1C gene that resulted in the production of three different RNA products, explaining the co-occurring features of both syndromes.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Genetics & Heredity
Abeer Al Tuwaijri, Yusra Alyafee, Mashael Alharbi, Maryam Ballow, Mohammed Aldrees, Qamre Alam, Rola A. Sleiman, Muhammad Umair, Majid Alfadhel
Summary: DCMA is a rare genetic mitochondrial syndrome characterized by dilated cardiomyopathy and increased urinary excretion of 3-methylglutaconic acid. A novel variant in the DNAJC19 gene causing this syndrome was identified, highlighting the high clinical and genetic heterogeneity of the disease.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Medicine, Research & Experimental
Haishan Long, Cheng Wen, Juan Zhao, Jiawei Wang, Yang Li, Xinxing Fu, Lihui Huang
Summary: This study evaluates the frequency of otolaryngologic symptoms and therapeutic results in patients with mitochondrial encephalomyopathy (MEM). The study finds that hearing loss, dysphagia, and facial weakness are common symptoms of MEM, with sensorineural hearing loss often starting in adolescence. Distortion product otoacoustic emissions and auditory brainstem response testing are effective for monitoring the pathogenesis. Treatment with the mitochondrial synthase complex benefits patients with acute episodes.
EUROPEAN JOURNAL OF MEDICAL RESEARCH
(2022)
Article
Neurosciences
Cong Zhou, Hongmei Zhu, Qinqin Xiang, Jingqun Mai, Xihan Wang, Jing Wang, Shanling Liu
Summary: This study aimed to identify pathogenic variants in a Chinese girl with developmental delay, impaired social interaction, and autistic behavior. Whole-exome sequencing revealed a pathogenic variant in the DYRK1A gene, providing important information for molecular diagnosis.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Genetics & Heredity
Valentina Barone, Chiara La Morgia, Leonardo Caporali, Claudio Fiorini, Michele Carbonelli, Laura Ludovica Gramegna, Fiorina Bartiromo, Caterina Tonon, Luca Morandi, Rocco Liguori, Aurelia Petrini, Rachele Brugnano, Rachele Del Sordo, Carla Covarelli, Manrico Morroni, Raffaele Lodi, Valerio Carelli
Summary: This study reports a unique combination of LHON, nephropathy, sensorineural deafness, and subcortical and cerebellar atrophy associated with the m.13513G>A variant.
FRONTIERS IN GENETICS
(2022)