The effects of nuclear DNA mutations on mitochondrial function.
J Am Assoc Nurse Pract
; 35(1): 2-4, 2023 Jan 01.
Article
en En
| MEDLINE
| ID: mdl-36602472
ABSTRACT
ABSTRACT The multiple functions of mitochondria, including adenosine triphosphate synthesis, are controlled by the coordination of both the mitochondrial DNA (mtDNA) and the nuclear DNA (nDNA) genomes. Mitochondrial disorders manifest because of impairment of energy metabolism. This article focuses on mutations in two nuclear genes and their effect on mitochondrial function. Mutations in the polymerase gamma, or POLG, gene are associated with multisystemic disease processes, including Alpers Syndrome, a severe childhood-onset syndrome. Mutations in the OPA1 gene are associated with autosomal dominant optic atrophy and other neurologic, musculoskeletal, and ophthalmologic symptoms. When assessing for disorders affecting energy metabolism, sequencing of both the mtDNA genome and the nDNA whole exome sequencing is necessary.
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1
Bases de datos:
MEDLINE
Asunto principal:
Esclerosis Cerebral Difusa de Schilder
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Atrofia Óptica Autosómica Dominante
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Enfermedades Mitocondriales
Límite:
Humans
Idioma:
En
Revista:
J Am Assoc Nurse Pract
Año:
2023
Tipo del documento:
Article