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BMC Res Notes. 2018 Dec 20;11(1):911. doi: 10.1186/s13104-018-4025-y.

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.

Author information

1
Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi Aldo Moro, Piazza G. Cesare, 70124, Bari, Italy.
2
Ospedale Casa Sollievo della Sofferenza IRCCS, UOC Genetica Medica, San Giovanni Rotondo, Italy.
3
Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza-CIBER de Enfermedades Raras (CIBERER)-Instituto de Investigación Sanitaria de Aragón (IIS Aragón), 50013, Zaragoza, Spain.
4
Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi Aldo Moro, Piazza G. Cesare, 70124, Bari, Italy. vittoria.petruzzella@uniba.it.

Abstract

OBJECTIVES:

Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by a variable and reduced penetrance. Individuals carrying a primary LHON-causing mitochondrial DNA (mtDNA) mutation may either remain asymptomatic lifelong, as unaffected carriers, or develop sudden central visual loss that rapidly aggravates over some weeks. Over the years several genetic/environmental triggers able to modulate the risk of developing LHON have been proposed. We provided data supporting a possible correlation between LHON penetrance and the mtDNA copy number, a raw index of mitochondrial mass, whose increase could represent a compensatory response that cells implement to alleviate the pathogenic effect of the primary LHON-causing mtDNA mutations.

DATA DESCRIPTION:

We collected Italian and Spanish subjects harboring one of the three common LHON primary mutations, either in heteroplasmic or homoplasmic status. For each population we were able to discriminate between affected subjects presenting typical clinical tracts of LHON and LHON-causing mutation carriers showing no symptoms correlated with vision loss. Each subject has been characterized for the presence of a LHON primary mutation, for its status of homoplasmy or heteroplasmy, and for the mtDNA content per cell, expressed as relative mtDNA/nDNA ratio respect to controls. Additional clinical information is present for all the Italian subjects.

KEYWORDS:

Incomplete penetrance; Leber’s hereditary optic neuropathy; Mitochondrial genome; mtDNA copy number

PMID:
30572950
PMCID:
PMC6302380
DOI:
10.1186/s13104-018-4025-y
[Indexed for MEDLINE]
Free PMC Article

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