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  • 1
    Article
    Article
    Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options
    2013
    ISSN: 1933-7213 
    Details
    Language: English
    In: Neurotherapeutics, 2013-02-06, Vol.10 (2), p.186-198
    Description: Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis ( TK2 , SUCLA2 , SUCLG1 , RRM2B , DGUOK , and TYMP ) or mtDNA replication ( POLG and C10orf2 ). MDS are phenotypically heterogeneous and usually classified as myopathic, encephalomyopathic, hepatocerebral or neurogastrointestinal. Myopathic MDS, caused by mutations in TK2 , usually present before the age of 2 years with hypotonia and muscle weakness. Encephalomyopathic MDS, caused by mutations in SUCLA2 , SUCLG1 , or RRM2B , typically present during infancy with hypotonia and pronounced neurological features. Hepatocerebral MDS, caused by mutations in DGUOK , MPV17 , POLG , or C10orf2 , commonly have an early-onset liver dysfunction and neurological involvement. Finally, TYMP mutations have been associated with mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease that typically presents before the age of 20 years with progressive gastrointestinal dysmotility and peripheral neuropathy. Overall, MDS are severe disorders with poor prognosis in the majority of affected individuals. No efficacious therapy is available for any of these disorders. Affected individuals should have a comprehensive evaluation to assess the degree of involvement of different systems. Treatment is directed mainly toward providing symptomatic management. Nutritional modulation and cofactor supplementation may be beneficial. Liver transplantation remains controversial. Finally, stem cell transplantation in MNGIE disease shows promising results.
    Subject(s): Alpers-Huttenlocher syndrome ; Biomedical and Life Sciences ; Biomedicine ; DNA Replication - genetics ; DNA Replication - physiology ; DNA, Mitochondrial - genetics ; DNA, Mitochondrial - metabolism ; DNA, Mitochondrial - physiology ; Genes ; Genetic aspects ; Health aspects ; Hepatocerebral syndrome ; Humans ; Liver Transplantation ; Medical genetics ; Mitochondrial Diseases - genetics ; Mitochondrial Diseases - physiopathology ; Mitochondrial Diseases - therapy ; Mitochondrial DNA ; Mitochondrial Encephalomyopathies - genetics ; Mitochondrial Encephalomyopathies - pathology ; Mitochondrial Encephalomyopathies - therapy ; Mitochondrial encephalomyopathy ; Mitochondrial Myopathies - genetics ; Mitochondrial Myopathies - pathology ; Mitochondrial Myopathies - therapy ; Mitochondrial myopathy ; Mitochondrial neurogastrointestinal (MNGIE) disease ; Mutation - genetics ; Mutation - physiology ; Nervous System Diseases - genetics ; Nervous System Diseases - physiopathology ; Nervous System Diseases - therapy ; Neurobiology ; Neurology ; Neurosciences ; Neurosurgery ; Nucleotides - metabolism ; Nutritional Support ; Review ; Thymidine - metabolism
    ISSN: 1933-7213
    E-ISSN: 1878-7479
    DOI: 10.1007/s13311-013-0177-6
    Source: PubMed Central
    Source: Alma/SFX Local Collection
    URL: https://www.ncbi.nlm.nih.gov/pubmed/23385875$$D View this record in MEDLINE/PubMed
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  • 2
    Article
    Article
    Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
    2015
    ISSN: 1098-3600 
    Details
    Language: English
    In: Genetics in medicine, 2015-09, Vol.17 (9), p.689-701
    Description: The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. This statement is intended for physicians who are engaged in diagnosing and treating these patients. The Writing Group members were appointed by the Mitochondrial Medicine Society. The panel included members with expertise in several different areas. The panel members utilized a comprehensive review of the literature, surveys, and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve. Consensus-based recommendations are provided for the diagnosis and treatment of mitochondrial disease. The Delphi process enabled the formation of consensus-based recommendations. We hope that these recommendations will help standardize the evaluation, diagnosis, and care of patients with suspected or demonstrated mitochondrial disease.
    Subject(s): Consensus ; consensus criteria ; Delphi method ; Delphi Technique ; Evidence-Based Medicine ; Humans ; mitochondrial disease ; Mitochondrial Diseases - diagnosis ; Mitochondrial Diseases - therapy ; mitochondrial medicine ; Mitochondrial Medicine Society ; Treatment Outcome
    ISSN: 1098-3600
    E-ISSN: 1530-0366
    DOI: 10.1038/gim.2014.177
    Source: Alma/SFX Local Collection
    URL: https://www.ncbi.nlm.nih.gov/pubmed/25503498$$D View this record in MEDLINE/PubMed
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  • 3
    Article
    Article
    Mitochondrial Cardiomyopathies
    2016
    ISSN: 2297-055X 
    Details
    Language: English
    In: Frontiers in cardiovascular medicine, 2016, Vol.3, p.25-25
    Description: Mitochondria are found in all nucleated human cells and perform various essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA), whereas more than 99% of them are encoded by nuclear DNA (nDNA). Mutations in mtDNA or mitochondria-related nDNA genes result in mitochondrial dysfunction leading to insufficient energy production required to meet the needs for various organs, particularly those with high energy requirements, including the central nervous system, skeletal and cardiac muscles, kidneys, liver, and endocrine system. Because cardiac muscles are one of the high energy demanding tissues, cardiac involvement occurs in mitochondrial diseases with cardiomyopathies being one of the most frequent cardiac manifestations found in these disorders. Cardiomyopathy is estimated to occur in 20-40% of children with mitochondrial diseases. Mitochondrial cardiomyopathies can vary in severity from asymptomatic status to severe manifestations including heart failure, arrhythmias, and sudden cardiac death. Hypertrophic cardiomyopathy is the most common type; however, mitochondrial cardiomyopathies might also present as dilated, restrictive, left ventricular non-compaction, and histiocytoid cardiomyopathies. Cardiomyopathies are frequent manifestations of mitochondrial diseases associated with defects in electron transport chain complexes subunits and their assembly factors, mitochondrial transfer RNAs, ribosomal RNAs, ribosomal proteins, translation factors, mtDNA maintenance, and coenzyme Q10 synthesis. Other mitochondrial diseases with cardiomyopathies include Barth syndrome, Sengers syndrome, TMEM70-related mitochondrial complex V deficiency, and Friedreich ataxia.
    Subject(s): Barth Syndrome ; Cardiovascular Medicine ; dilated cardiomyopathy ; Friedreich Ataxia ; histiocytoid cardiomyopathies ; Hypertrophic Cardiomyopathy ; non-compaction cardiomyopathy ; Noncompaction cardiomyopathy ; Restrictive cardiomyopathy
    ISSN: 2297-055X
    E-ISSN: 2297-055X
    DOI: 10.3389/fcvm.2016.00025
    Source: PubMed Central
    URL: https://www.ncbi.nlm.nih.gov/pubmed/27504452$$D View this record in MEDLINE/PubMed
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  • 4
    Article
    Article
    New insights in nutritional management and amino acid supplementation in urea cycle disorders
    2010
    ISSN: 1096-7192 
    Details
    Language: English
    In: Molecular genetics and metabolism, 2010, Vol.100 (Suppl 1), p.S72-S76
    Description: Sodium phenylbutyrate is used in the pharmacological treatment of urea cycle disorders to create alternative pathways for nitrogen excretion. The primary metabolite, phenylacetate, conjugates glutamine in the liver and kidney to form phenylacetylglutamine that is readily excreted in the urine. Patients with urea cycle disorders taking sodium phenylbutyrate have a selective reduction in the plasma concentrations of branched chain amino acids despite adequate dietary protein intake. Moreover, this depletion is usually the harbinger of a metabolic crisis. Plasma branched chain amino acids and other essential amino acids were measured in control subjects, untreated ornithine transcarbamylase deficiency females, and treated patients with urea cycle disorders (ornithine transcarbamylase deficiency and argininosuccinate synthetase deficiency) in the absorptive state during the course of stable isotope studies. Branched chain amino acid levels were significantly lower in treated patients with urea cycle disorders when compared to untreated ornithine transcarbamylase deficiency females or control subjects. These results were replicated in control subjects who had low steady-state branched chain amino acid levels when treated with sodium phenylbutyrate. These studies suggested that alternative pathway therapy with sodium phenylbutyrate causes a substantial impact on the metabolism of branched chain amino acids in patients with urea cycle disorders, implying that better titration of protein restriction can be achieved with branched chain amino acid supplementation in these patients who are on alternative pathway therapy.
    Subject(s): Adolescent ; Adult ; Amino Acids - therapeutic use ; Branched chain amino acids ; Child ; Dietary Supplements ; Female ; Humans ; Male ; Sodium phenylbutyrate ; Urea cycle disorders ; Urea Cycle Disorders, Inborn - diet therapy
    ISSN: 1096-7192
    E-ISSN: 1096-7206
    DOI: 10.1016/j.ymgme.2010.02.019
    Source: Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
    URL: https://www.ncbi.nlm.nih.gov/pubmed/20299258$$D View this record in MEDLINE/PubMed
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  • 5
    Article
    Article
    Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
    2020
    ISSN: 1098-3600 
    Details
    Language: English
    In: Genetics in medicine, 2020-06, Vol.22 (6), p.1102-1107
    Description: We studied galactose supplementation in SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG), caused by monoallelic pathogenic variants in SLC35A2 (Xp11.23), encoding the endoplasmic reticulum (ER) and Golgi UDP-galactose transporter. Patients present with epileptic encephalopathy, developmental disability, growth deficiency, and dysmorphism. Ten patients with SLC35A2-CDG were supplemented with oral D-galactose for 18 weeks in escalating doses up to 1.5 g/kg/day. Outcome was assessed using the Nijmegen Pediatric CDG Rating Scale (NPCRS, ten patients) and by glycomics (eight patients). SLC35A2-CDG patients demonstrated improvements in overall Nijmegen Pediatric CDG Rating Scale (NPCRS) score (P = 0.008), the current clinical assessment (P = 0.007), and the system specific involvement (P = 0.042) domains. Improvements were primarily in growth and development with five patients resuming developmental progress, which included postural control, response to stimuli, and chewing and swallowing amelioration. Additionally, there were improvements in gastrointestinal symptoms and epilepsy. One patient in our study did not show any clinical improvement. Galactose supplementation improved patients' glycosylation with decreased ratios of incompletely formed to fully formed glycans (M-gal/disialo, P = 0.012 and monosialo/disialo, P = 0.017) and increased levels of a fully galactosylated N-glycan (P = 0.05). Oral D-galactose supplementation results in clinical and biochemical improvement in SLC35A2-CDG. Galactose supplementation may partially overcome the Golgi UDP-galactose deficiency and improves galactosylation. Oral galactose is well tolerated and shows promise as dietary therapy.
    Subject(s): Child ; Congenital diseases ; Congenital Disorders of Glycosylation - drug therapy ; Congenital Disorders of Glycosylation - genetics ; Convulsions & seizures ; Dietary Supplements ; Disease ; Drug dosages ; Endoplasmic reticulum ; Epilepsy ; Galactose ; Genomics ; glycan ; Glycosylation ; Hospitals ; Humans ; Laboratories ; Mass spectrometry ; Medicine ; Metabolism ; Nijmegen Pediatric CDG Rating Scale (NCPRS) ; Patients ; Pediatrics ; Scientific imaging ; SLC35A2-CDG ; Strabismus
    ISSN: 1098-3600
    E-ISSN: 1530-0366
    DOI: 10.1038/s41436-020-0767-8
    Source: Alma/SFX Local Collection
    URL: https://www.ncbi.nlm.nih.gov/pubmed/32103184$$D View this record in MEDLINE/PubMed
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  • 6
    Article
    Article
    Reanalysis of Clinical Exome Sequencing Data
    2019
    ISSN: 0028-4793 
    Details
    Language: English
    In: The New England journal of medicine, 2019-06-20, Vol.380 (25), p.2478-2480
    Description: As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed that a reanalysis of data initially analyzed about 6 years ago almost doubled the diagnostic yield and that a semiautomated approach to sequence analysis had a diagnostic sensitivity of 92.9%.
    Subject(s): Abridged Index Medicus ; Exome ; General & Internal Medicine ; Genetic counseling ; Genetic Diseases, Inborn - diagnosis ; Genetic Diseases, Inborn - genetics ; Genetic Testing - methods ; Genomics ; Humans ; Laboratories ; Life Sciences & Biomedicine ; Medicine, General & Internal ; Mutation ; Patients ; Phenotype ; Science & Technology ; Sequence Analysis, DNA - methods ; Whole Exome Sequencing
    ISSN: 0028-4793
    E-ISSN: 1533-4406
    DOI: 10.1056/NEJMc1812033
    Source: Web of Science - Science Citation Index Expanded - 2019〈img src="http://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /〉
    Source: Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
    URL: https://www.ncbi.nlm.nih.gov/pubmed/31216405$$D View this record in MEDLINE/PubMed
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  • 7
    Article
    Article
    A new buzzard (Aves, Accipitridae) from the late Pliocene of Argentina
    2021
    ISSN: 0567-7920 
    Details
    Language: English
    In: Acta palaeontologica Polonica, 2021, Vol.66 (4), p.779-787
    Description: We describe a new species of a large buzzard (Accipitridae), Buteo dondasi sp. nov. from the late Pliocene of Buenos Aires Province, Argentina represented by an incomplete left hind limb, including a distal fragment of tibiotarsus, tarsometatarsus, fragment of os metatarsale I, and toes I and II. The new taxon exhibits characteristics of the crown group Accipitridae and the shape of the tarsometarsus allows its assignment to the genus Buteo. The new species represents the very first record of a representative of a non-scavenging diurnal bird of prey for the Chapadmalalan and one of the largest accipitrids (~ 2.3 kg) known for Argentina. Key words: Aves, Accipitriformes, Buteo, zoophagy, Pliocene, Atlantic coast, Argentina.
    Subject(s): accipitriformes ; argentina ; atlantic coast ; aves ; buteo ; pliocene ; zoophagy
    ISSN: 0567-7920
    E-ISSN: 1732-2421
    DOI: 10.4202/app.00933.2021
    Source: Academic Search Ultimate
    Source: DOAJ Directory of Open Access Journals - Not for CDI Discovery
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  • 8
    Article
    Article
    Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
    2014
    ISSN: 1018-4813 
    Details
    Language: English
    In: European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.79-87
    Description: In clinical diagnostics, both array comparative genomic hybridization (array CGH) and single nucleotide polymorphism (SNP) genotyping have proven to be powerful genomic technologies utilized for the evaluation of developmental delay, multiple congenital anomalies, and neuropsychiatric disorders. Differences in the ability to resolve genomic changes between these arrays may constitute an implementation challenge for clinicians: which platform (SNP vs array CGH) might best detect the underlying genetic cause for the disease in the patient? While only SNP arrays enable the detection of copy number neutral regions of absence of heterozygosity (AOH), they have limited ability to detect single-exon copy number variants (CNVs) due to the distribution of SNPs across the genome. To provide comprehensive clinical testing for both CNVs and copy-neutral AOH, we enhanced our custom-designed high-resolution oligonucleotide array that has exon-targeted coverage of 1860 genes with 60,000 SNP probes, referred to as Chromosomal Microarray Analysis - Comprehensive (CMA-COMP). Of the 3240 cases evaluated by this array, clinically significant CNVs were detected in 445 cases including 21 cases with exonic events. In addition, 162 cases (5.0%) showed at least one AOH region 〉10 Mb. We demonstrate that even though this array has a lower density of SNP probes than other commercially available SNP arrays, it reliably detected AOH events 〉10 Mb as well as exonic CNVs beyond the detection limitations of SNP genotyping. Thus, combining SNP probes and exon-targeted array CGH into one platform provides clinically useful genetic screening in an efficient manner.
    Subject(s): absence of heterozygosity ; array CGH ; Arrays ; Cancer ; Chromosomes ; Comparative Genomic Hybridization - methods ; Congenital defects ; Congenital diseases ; Copy number ; DNA Copy Number Variations - genetics ; DNA microarrays ; DNA probes ; Genetic screening ; Genetics ; Genome, Human ; Genomes ; Genomics ; Genotyping ; Genotyping Techniques - methods ; Heterozygosity ; Heterozygote ; Humans ; Hybridization ; Laboratories ; Licenses ; medically actionable variants ; Medicine ; Mental disorders ; Oligonucleotide Array Sequence Analysis ; Pediatrics ; Polymorphism, Single Nucleotide - genetics ; Single-nucleotide polymorphism ; SNP ; uniparental disomy
    ISSN: 1018-4813
    E-ISSN: 1476-5438
    DOI: 10.1038/ejhg.2013.77
    Source: Academic Search Ultimate
    Source: PubMed Central
    Source: Alma/SFX Local Collection
    URL: https://www.ncbi.nlm.nih.gov/pubmed/23695279$$D View this record in MEDLINE/PubMed
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  • 9
    Article
    Article
    Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders
    2019
    ISSN: 1098-3600 
    Details
    Language: English
    In: Genetics in medicine, 2019-09-01, Vol.21 (9), p.1977-1986
    Description: Purpose: Untargeted metabolomic analysis is increasingly being used in the screening and management of individuals with inborn errors of metabolism (IEM). We aimed to test whether untargeted metabolomic analysis in plasma might be useful for monitoring the disease course and management of urea cycle disorders (UCDs). Methods: Untargeted mass spectrometry-based metabolomic analysis was used to generate z-scores for more than 900 metabolites in plasma from 48 individuals with various UCDs. Pathway analysis was used to identify common pathways that were perturbed in each UCD. Results: Our metabolomic analysis in plasma identified multiple potentially neurotoxic metabolites of arginine in arginase deficiency and, thus, may have utility in monitoring the efficacy of treatment in arginase deficiency. In addition, we were also able to detect multiple biochemical perturbations in all UCDs that likely reflect clinical management, including metabolite alterations secondary to dietary and medication management. Conclusion: In addition to utility in screening for IEM, our results suggest that untargeted metabolomic analysis in plasma may be beneficial for monitoring efficacy of clinical management and off-target effects of medications in UCDs and potentially other IEM.
    Subject(s): Adolescent ; Adult ; arginase deficiency ; Biomarkers - blood ; branched-chain amino acids ; Child ; Child, Preschool ; Female ; Genetics & Heredity ; guanidino compounds ; Humans ; Life Sciences & Biomedicine ; Male ; Mass Spectrometry ; Metabolic Networks and Pathways - genetics ; Metabolism, Inborn Errors - blood ; Metabolism, Inborn Errors - genetics ; Metabolism, Inborn Errors - pathology ; Metabolites ; Metabolomics ; Science & Technology ; Urea - metabolism ; urea cycle disorder ; Urea Cycle Disorders, Inborn - blood ; Urea Cycle Disorders, Inborn - genetics ; Urea Cycle Disorders, Inborn - pathology ; Young Adult
    ISSN: 1098-3600
    E-ISSN: 1530-0366
    DOI: 10.1038/s41436-019-0442-0
    Source: Web of Science - Science Citation Index Expanded - 2019〈img src="http://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /〉
    Source: Alma/SFX Local Collection
    URL: https://www.ncbi.nlm.nih.gov/pubmed/30670878$$D View this record in MEDLINE/PubMed
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  • 10
    Article
    Article
    Mitochondrial Lipid Abnormality and Electron Transport Chain Impairment in Mice Lacking α-Synuclein
    2005
    ISSN: 0270-7306 
    Details
    Language: English
    In: Molecular and Cellular Biology, 2005-11-15, Vol.25 (22), p.10190-10201
    Description: Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit StumbleUpon Twitter current issue Spotlights in the Current Issue MCB About MCB Subscribers Authors Reviewers Advertisers Inquiries from the Press Permissions & Commercial Reprints ASM Journals Public Access Policy MCB RSS Feeds 1752 N Street N.W. • Washington DC 20036 202.737.3600 • 202.942.9355 fax • journals@asmusa.org Print ISSN: 0270-7306 Online ISSN: 1098-5549 Copyright © 2014 by the American Society for Microbiology.   For an alternate route to MCB .asm.org, visit: MCB       
    Subject(s): alpha-Synuclein - genetics ; alpha-Synuclein - metabolism ; alpha-Synuclein - physiology ; Animals ; Arachidonic Acid - metabolism ; Blotting, Western ; Brain - metabolism ; Cardiolipins - metabolism ; Cell Membrane - metabolism ; Diphenylhexatriene - chemistry ; Disease Models, Animal ; Electrophoresis, Gel, Two-Dimensional ; Electrophoresis, Polyacrylamide Gel ; Fatty Acids - metabolism ; Female ; Kinetics ; Lipids - chemistry ; Male ; Mammalian Genetic Models with Minimal or Complex Phenotypes ; Mice ; Mice, Transgenic ; Mitochondria - metabolism ; Neurons - metabolism ; Palmitic Acid - metabolism ; Parkinson Disease - pathology ; Phosphatidylglycerols - metabolism ; Phospholipids - metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Spectrometry, Fluorescence ; Time Factors
    ISSN: 0270-7306
    E-ISSN: 1098-5549
    DOI: 10.1128/MCB.25.22.10190-10201.2005
    Source: HighWire Press (Free Journals)
    Source: Hellenic Academic Libraries Link
    Source: PubMed Central
    URL: https://www.ncbi.nlm.nih.gov/pubmed/16260631$$D View this record in MEDLINE/PubMed
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