دورية أكاديمية
أعرض في EDS

Mitochondrial disease in childhood: nuclear encoded.

التفاصيل البيبلوغرافية
العنوان: Mitochondrial disease in childhood: nuclear encoded.
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
الوصف
تدمد:1878-7479
DOI:10.1007/s13311-013-0185-6