MITOCHONDRIAL-DNA ANALYSIS IN LEBERS HEREDITARY OPTIC NEUROPATHY

被引：8

作者：

BARBONI, P ^{[1
]}

MANTOVANI, V ^{[1
]}

MONTAGNA, P ^{[1
]}

BRAGLIANI, M ^{[1
]}

CORTELLI, P ^{[1
]}

LUGARESI, E ^{[1
]}

PUDDU, P ^{[1
]}

CARAMAZZA, R ^{[1
]}

机构：

[1] UNIV BOLOGNA,INST OPHTHALMOL,I-40126 BOLOGNA,ITALY

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1992年 / 13卷 / 04期

关键词：

LEBERS HEREDITARY OPTIC NEUROPATHY; MITOCHONDRIAL DNA MUTATION;

D O I：

10.3109/13816819209105170

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

A mitochondrial DNA (mtDNA) mutation at nucleotide 11778 has been reported as the genetic defect associated with Leber's hereditary optic neuropathy (LHON), but some pedigrees failed to reveal this mutation. The authors present the genetic analysis of a large Italian LHON family with three probands and 16 asymptomatic maternal relatives. The 11778 mtDNA mutation was present in this family and absent in 52 Italian healthy controls, confirming the association between this genetic defect and LHON. In addition, they found a variable proportion of mutated and wild-type mtDNA (heteroplasmy) in every maternally related family member, including the probands. Different patterns of heteroplasmy were present in the pedigree and lower levels of wild-type mtDNA seemed to correlate with the disease status. Moreover, the authors evaluated the mitotic segregation of mt genomes in blood, hair and urinary tract epithelia of the three patients and they found a similar level of heteroplasmy in these tissues.

引用

页码：219 / 226

页数：8

共 38 条

[1]

Nikoskelainen E.K., Hoyt W.F., Nummelin K.U., Ophthalmoscopic findings in Leber's hereditary optic neuropathy, Arch Ophthalmol, 100, pp. 1597-1602, (1982)

[2]

Novotny E.J., Sing G., Wallace D.C., Et al., Leber's disease and dystonia. A mitochondrial disease, Neurology, 36, pp. 1053-1060, (1986)

[3]

Nikoskelainen E.K., Savontaus M.L., Wanne O.L., Katila M.J., Nummelin K.U., Leber's hereditary optic neuroretinopathy, a maternally inherited disease, Arch Ophthalmol, 105, pp. 665-671, (1987)

[4]

Newman N.J., Lott M.T., Wallace D.C., The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation, Am J Ophthalmol, 111, pp. 750-762, (1991)

[5]

Anderson S., Bankier A.T., Barrel B.G., Et al., Sequence and organization of the human mitochondrial genome, Nature, 290, pp. 457-465, (1981)

[6]

Chomyn A., Mariottini P., Cleeter M.W.J., Et al., Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase subunit, Nature, 314, pp. 592-597, (1985)

[7]

Chomyn A., Cleeter M.W.J., Ragan C.I., Riley M., Doolittle R.F., Attardi G., URF6, last unidentified reading frame of human mt DNA, codes for an NADH dehydrogenase subunit, Science, 234, pp. 614-618, (1986)

[8]

Giles R.E., Blanc H., Cann H.M., Wallace D.C., Maternal inheritance of human mitochondrial DNA, Proc Natl Acad Sci USA, 77, pp. 6715-6719, (1980)

[9]

Holt I.J., Harding A.E., Morgan-Hughes J.A., Deletion of muscle mitochondrial DNA in patients with mitochondrial myopathies, Nature, 331, pp. 717-719, (1988)

[10]

Lestienne P., Ponsot G., Kearns-Sayre syndrome with muscle mitochondrial DNA deletion, Lancet, 1, (1988)

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