Understanding the nomenclature of mitochondrial DNA mutations through examples of two specific disease entities: Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and Leber hereditary optic neuropathy.
J Am Assoc Nurse Pract
; 34(2): 217-219, 2022 Feb 01.
Article
en En
| MEDLINE
| ID: mdl-35120083
ABSTRACT
ABSTRACT Mitochondrial diseases are genetic disorders that can arise either from maternally inherited mitochondrial DNA (mtDNA) or from mutations in nuclear DNA. This article is the second in a series of papers reviewing mitochondrial genetics and several of the disorders associated with mitochondrial gene variants. With a prevalence of 1â¼4,300 persons, mitochondrial disorders are diagnostic entities with which nurse practitioners should be familiar. In describing genetic mutations, numbering nucleotides (nuclear or mtDNA) is critical for communicating exactly where a variation has occurred in a stretch of nucleotides. This article discusses the nomenclature associated with mtDNA mutations, using the examples of mutations causing mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and Leber hereditary optic neuropathy. Pathophysiology, symptoms, and treatment options for these disease entities are discussed.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Acidosis Láctica
/
Accidente Cerebrovascular
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Atrofia Óptica Hereditaria de Leber
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
J Am Assoc Nurse Pract
Año:
2022
Tipo del documento:
Article