Large mitochondrial DNA deletion in an infant with addison disease

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dc.catalogadoryvc
dc.contributor.authorDurán Saavedra, Gloria Patricia
dc.contributor.authorMartínez Aguayo, Alejandro
dc.contributor.authorPoggi, Helena
dc.contributor.authorLagos Lucero, Marcela
dc.contributor.authorGutiérrez, D.
dc.contributor.authorHarris D., Paul R.
dc.date.accessioned2024-01-19T14:14:31Z
dc.date.available2024-01-19T14:14:31Z
dc.date.issued2012
dc.description.abstractBackground: Mitochondrial diseases are a group of disorders caused by mutations in nuclear DNA or mitochondrial DNA, usually involving multiple organ systems. Primary adrenal insufficiency due to mitochondrial disease is extremely infrequent and has been reported in association with mitochondrial DNA deletion syndromes such as Kearns–Sayre syndrome. Aim: To report a 3-year-old boy with Addison disease, congenital glaucoma, chronic pancreatitis, and mitochondrial myopathy due to large mitochondrial DNA deletion. Method: Molecular analysis of mitochondrial DNA samples obtained from peripheral blood, oral mucosa, and muscle tissue. Results: A novel large mitochondrial DNA deletion of 7,372bp was identified involving almost all genes on the big arch of mtDNA. Conclusions: This case reaffirms the association of adrenal insufficiency and mitochondrial DNA deletions and presents new evidence that glaucoma is another manifestation of mitochondrial diseases. Due to the genetic and clinical heterogeneity of mitochondrial disorders, molecular analysis is crucial to confirm diagnosis and to allow accurate genetic counseling.
dc.fuente.origenORCID
dc.identifier.doi10.1007/8904_2011_33
dc.identifier.eisbn978-3-642-24936-5
dc.identifier.isbn978-3-642-24935-8
dc.identifier.urihttps://doi.org/10.1007/8904_2011_33
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80663
dc.information.autorucEscuela de Medicina; Harris Diez, Paul Richard; 0000-0001-6226-0957; 80706
dc.information.autorucEscuela de Medicina; Durán Saavedra, Gloria Patricia; 0000-0002-3731-9299; 1001949
dc.information.autorucEscuela de Medicina; Martínez Aguayo, Alejandro; 0000-0002-1677-3513; 1003862
dc.information.autorucEscuela de Medicina; Poggi, Helena; 0000-0002-5046-639X; 115999
dc.information.autorucEscuela de Medicina; Lagos Lucero, Marcela; S/I; 72982
dc.information.autorucEscuela de Medicina; Harris D., Paul R.; 0000-0001-6226-0957; 80706
dc.language.isoen
dc.pagina.final9
dc.pagina.inicio5
dc.publisherSpringer
dc.relation.ispartofJIMD Reports - Case and Research Reports, 2011/3
dc.rightsacceso restringido
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleLarge mitochondrial DNA deletion in an infant with addison disease
dc.typecapítulo de libro
dc.volumen3
sipa.codpersvinculados80706
sipa.codpersvinculados1001949
sipa.codpersvinculados1003862
sipa.codpersvinculados115999
sipa.codpersvinculados72982
sipa.trazabilidadORCID;2024-01-08
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