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High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON).

Abstract Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. It is characterized by as yet undisclosed genetic and environmental factors affecting the incomplete penetrance.
PMID
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Authors

Mayor MeshTerms

DNA Copy Number Variations

Mutation

Keywords
Journal Title investigative ophthalmology & visual science
Publication Year Start




PMID- 28403426
OWN - NLM
STAT- MEDLINE
DA  - 20170413
DCOM- 20170418
LR  - 20170418
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 58
IP  - 4
DP  - 2017 Apr 01
TI  - High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in
      Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON).
PG  - 2193-2197
LID - 10.1167/iovs.16-20389 [doi]
AB  - Purpose: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease
      that typically causes bilateral blindness in young men. It is characterized by as
      yet undisclosed genetic and environmental factors affecting the incomplete
      penetrance. Methods: We identified 27 LHON subjects who possess heteroplasmic
      primary LHON mutations. Mitochondrial DNA (mtDNA) copy number was evaluated.
      Results: The presence of centrocecal scotoma, an edematous, hyperemic optic nerve
      head, and vascular tortuosity, as well as telangiectasia was recognized in
      affected subjects. We found higher cellular mtDNA content in peripheral blood
      cells of unaffected heteroplasmic mutation carriers with respect to the affected.
      Conclusions: The increase of cellular mtDNA content prevents complete loss of
      vision despite the presence of a heteroplasmic state of LHON primary mutation,
      suggesting that it is a key factor responsible for penetrance of LHON.
FAU - Bianco, Angelica
AU  - Bianco A
AD  - Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso -
      Universita degli Studi Aldo Moro, Piazza G. Cesare, Bari, Italy.
FAU - Bisceglia, Luigi
AU  - Bisceglia L
AD  - Ospedale 'Casa Sollievo della Sofferenza' IRCCS, UOC Genetica Medica, San
      Giovanni Rotondo, Italy.
FAU - Russo, Luciana
AU  - Russo L
AD  - Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso -
      Universita degli Studi Aldo Moro, Piazza G. Cesare, Bari, Italy.
FAU - Palese, Luigi L
AU  - Palese LL
AD  - Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso -
      Universita degli Studi Aldo Moro, Piazza G. Cesare, Bari, Italy.
FAU - D'Agruma, Leonardo
AU  - D'Agruma L
AD  - Ospedale 'Casa Sollievo della Sofferenza' IRCCS, UOC Genetica Medica, San
      Giovanni Rotondo, Italy.
FAU - Emperador, Sonia
AU  - Emperador S
AD  - Departamento de Bioquimica, Biologia Molecular y Celular; CIBERER, IIS-Aragon,
      Universidad de Zaragoza, Zaragoza, Spain.
FAU - Montoya, Julio
AU  - Montoya J
AD  - Departamento de Bioquimica, Biologia Molecular y Celular; CIBERER, IIS-Aragon,
      Universidad de Zaragoza, Zaragoza, Spain.
FAU - Guerriero, Silvana
AU  - Guerriero S
AD  - Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso -
      Universita degli Studi Aldo Moro, Piazza G. Cesare, Bari, Italy.
FAU - Petruzzella, Vittoria
AU  - Petruzzella V
AD  - Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso -
      Universita degli Studi Aldo Moro, Piazza G. Cesare, Bari, Italy.
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Antioxidants)
RN  - 0 (DNA, Mitochondrial)
RN  - 1339-63-5 (Ubiquinone)
RN  - HB6PN45W4J (idebenone)
SB  - IM
MH  - Antioxidants/therapeutic use
MH  - Blindness/*prevention & control
MH  - *DNA Copy Number Variations
MH  - DNA, Mitochondrial/*genetics
MH  - Female
MH  - Genes, Mitochondrial/genetics
MH  - Humans
MH  - Male
MH  - Mitochondria/*genetics
MH  - Mitochondrial Diseases/diagnosis/drug therapy/*genetics
MH  - *Mutation
MH  - Optic Atrophy, Hereditary, Leber/diagnosis/drug therapy/*genetics
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Restriction Fragment Length
MH  - Ubiquinone/analogs & derivatives/therapeutic use
MH  - Visual Acuity
EDAT- 2017/04/14 06:00
MHDA- 2017/04/19 06:00
CRDT- 2017/04/14 06:00
AID - 2618814 [pii]
AID - 10.1167/iovs.16-20389 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2193-2197. doi:
      10.1167/iovs.16-20389.

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