Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

Michael D. Brown; Seyed Hosseini; Israel Steiner; Douglas C. Wallace; Isabelle Korn-Lubetzki

doi:10.1002/mds.10646

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

Michael D. Brown, Seyed Hosseini, Israel Steiner, Douglas C. Wallace, Isabelle Korn-Lubetzki

Research output: Contribution to journal › Article › peer-review

Abstract

The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNA^Gly mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.

Original language	English
Pages (from-to)	235-237
Number of pages	3
Journal	Movement Disorders
Volume	19
Issue number	2
DOIs	https://doi.org/10.1002/mds.10646
State	Published - 2004
Externally published	Yes

Keywords

Dystonia
Mitochondria
MtDNA mutations
Optic atrophy

Access to Document

10.1002/mds.10646

Cite this

@article{a28941709c134e119fe05b87e854b408,

title = "Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy",

abstract = "The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting {"}mitochondrial-like{"} optic atrophy and dystonia. A candidate tRNAGly mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.",

keywords = "Dystonia, Mitochondria, MtDNA mutations, Optic atrophy",

author = "Brown, {Michael D.} and Seyed Hosseini and Israel Steiner and Wallace, {Douglas C.} and Isabelle Korn-Lubetzki",

year = "2004",

doi = "10.1002/mds.10646",

language = "אנגלית",

volume = "19",

pages = "235--237",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley and Sons Inc.",

number = "2",

}

TY - JOUR

T1 - Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

AU - Brown, Michael D.

AU - Hosseini, Seyed

AU - Steiner, Israel

AU - Wallace, Douglas C.

AU - Korn-Lubetzki, Isabelle

PY - 2004

Y1 - 2004

N2 - The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNAGly mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.

AB - The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNAGly mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.

KW - Dystonia

KW - Mitochondria

KW - MtDNA mutations

KW - Optic atrophy

UR - http://www.scopus.com/inward/record.url?scp=1542330832&partnerID=8YFLogxK

U2 - 10.1002/mds.10646

DO - 10.1002/mds.10646

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 14978686

AN - SCOPUS:1542330832

VL - 19

SP - 235

EP - 237

JO - Movement Disorders

JF - Movement Disorders

SN - 0885-3185

IS - 2

ER -

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this