دورية أكاديمية
Mitochondrial disease in childhood: nuclear encoded.
العنوان: | Mitochondrial disease in childhood: nuclear encoded. |
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المؤلفون: | Goldstein AC; Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. amy.goldstein@chp.edu, Bhatia P, Vento JM |
المصدر: | Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2013 Apr; Vol. 10 (2), pp. 212-26. |
نوع المنشور: | Journal Article; Review |
اللغة: | English |
بيانات الدورية: | Publisher: Elsevier Inc. on behalf of American Society for Experimental NeuroTherapeutics Country of Publication: United States NLM ID: 101290381 Publication Model: Print Cited Medium: Internet ISSN: 1878-7479 (Electronic) Linking ISSN: 18787479 NLM ISO Abbreviation: Neurotherapeutics Subsets: MEDLINE |
أسماء مطبوعة: | Publication: 2024- : [New York] : Elsevier Inc. on behalf of American Society for Experimental NeuroTherapeutics Original Publication: Orlando, FL : Elsevier, c2007- |
مواضيع طبية MeSH: | Cell Nucleus/*pathology , Mitochondrial Diseases/*genetics, Cell Nucleus/genetics ; Child ; DNA, Mitochondrial/genetics ; DNA, Mitochondrial/physiology ; Gene Deletion ; Genes ; Humans ; Mitochondrial Diseases/classification ; Mitochondrial Diseases/physiopathology ; Mitochondrial Encephalomyopathies/genetics ; Mitochondrial Encephalomyopathies/physiopathology ; Nervous System Diseases/genetics ; Nervous System Diseases/physiopathology |
مستخلص: | Primary mitochondrial disorders are clinically and genetically heterogeneous, caused by an alteration(s) in either mitochondrial DNA or nuclear DNA, and affect the respiratory chain's ability to undergo oxidative phosphorylation, leading to decreased production of adenosine triphosphophate and subsequent energy failure. These disorders may present at any age, but children tend to have an acute onset of disease compared with subacute or slowly progressive presentation in adults. Varying organ involvement also contributes to the phenotypic spectrum seen in these disorders. The childhood presentation of primary mitochondrial disease is mainly due to nuclear DNA mutations, with mitochondrial DNA mutations being less frequent in childhood and more prominent in adulthood disease. The clinician should be aware of the pediatric presentation of mitochondrial disease and have an understanding of the myriad of nuclear genes responsible for these disorders. The nuclear genes can be best understood by utilizing a classification system of location and function within the mitochondria. |
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المشرفين على المادة: | 0 (DNA, Mitochondrial) |
تواريخ الأحداث: | Date Created: 20130322 Date Completed: 20131024 Latest Revision: 20240204 |
رمز التحديث: | 20240205 |
مُعرف محوري في PubMed: | PMC3625393 |
DOI: | 10.1007/s13311-013-0185-6 |
PMID: | 23516041 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1878-7479 |
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DOI: | 10.1007/s13311-013-0185-6 |