scholarly journals Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

2005 ◽  
Vol 77 (3) ◽  
pp. 430-441 ◽  
Author(s):  
Anna H. Hakonen ◽  
Silja Heiskanen ◽  
Vesa Juvonen ◽  
Ilse Lappalainen ◽  
Petri T. Luoma ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Dna Polymerase ◽  
Autosomal Recessive ◽  
Recessive Ataxia ◽  
European Origin ◽  
Common Cause ◽  
Autosomal Recessive Ataxia ◽  
Mitochondrial Dna Polymerase

CANVAS is a common form of late-onset hereditary ataxia

2020 ◽  
pp. 51-52
Author(s):  
Е.П. Нужный ◽  
Н.Ю. Абрамычева ◽  
Е.Г. Воробьева ◽  
Е.О. Иванова ◽  
Ю.А. Шпилюкова ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Picture ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Repeat Expansion ◽  
Hereditary Ataxia ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia

Синдром CANVAS (мозжечковая атаксия, невропатия и вестибулярная арефлексия) - аутосомно-рецессивная атаксия с поздним дебютом, обусловленная носительством биаллельной экспансии (AAGGG)n во 2-м интроне гена RFC1. До настоящего момента отсутствуют сведения о распространенности данного заболевания в российских семьях. Нами был проведен поиск биаллельной экспансии AAGGG-повторов у 35 российских пациентов с поздней мозжечковой атаксией. Верифицированы 5 пациентов (14,3%) с синдромом CANVAS и характерной клинической картиной. CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia) is a late-onset autosomal recessive ataxia due to biallelic (AAGGG)n repeat expansion in the 2nd intron of the RFC1 gene. There is no information on the CANVAS prevalence in Russian families. We searched for biallelic expansion of AAGGG repeats in 35 Russian patients with late-onset cerebellar ataxia. Five patients (14.3%) with CANVAS syndrome and a characteristic clinical picture were verified.

scholarly journals The tamas Gene, Identified as a Mutation That Disrupts Larval Behavior in Drosophila melanogaster, Codes for the Mitochondrial DNA Polymerase Catalytic Subunit (DNApol-γ125)

Genetics ◽  
1999 ◽  
Vol 153 (4) ◽  
pp. 1809-1824 ◽  
Author(s):  
Balaji Iyengar ◽  
John Roote ◽  
Ana Regina Campos
Keyword(s):  
Mitochondrial Dna ◽  
Drosophila Melanogaster ◽  
Mutant Strain ◽  
Dna Polymerase ◽  
Complementation Group ◽  
Behavioral Changes ◽  
Catalytic Subunit ◽  
Primary Deficit ◽  
Mitochondrial Dna Polymerase ◽  
Food Substrate

AbstractFrom a screen of pupal lethal lines of Drosophila melanogaster we identified a mutant strain that displayed a reproducible reduction in the larval response to light. Moreover, this mutant strain showed defects in the development of the adult visual system and failure to undergo behavioral changes characteristic of the wandering stage. The foraging third instar larvae remained in the food substrate for a prolonged period and died at or just before pupariation. Using a new assay for individual larval photobehavior we determined that the lack of response to light in these mutants was due to a primary deficit in locomotion. The mutation responsible for these phenotypes was mapped to the lethal complementation group l(2)34Dc, which we renamed tamas (translated from Sanskrit as “dark inertia”). Sequencing of mutant alleles demonstrated that tamas codes for the mitochondrial DNA polymerase catalytic subunit (DNApol-γ125).

Human Mitochondrial DNA Polymerase Holoenzyme: Reconstitution and Characterization†

Biochemistry ◽  
2000 ◽  
Vol 39 (7) ◽  
pp. 1702-1708 ◽  
Author(s):  
Allison A. Johnson ◽  
Yu-chih Tsai ◽  
Steven W. Graves ◽  
Kenneth A. Johnson
Keyword(s):  
Mitochondrial Dna ◽  
Dna Polymerase ◽  
Human Mitochondrial Dna ◽  
Mitochondrial Dna Polymerase

scholarly journals C-Terminal Extension of the Yeast Mitochondrial DNA Polymerase Determines the Balance between Synthesis and Degradation

PLoS ONE ◽  
2012 ◽  
Vol 7 (3) ◽  
pp. e33482 ◽  
Author(s):  
Katrin Viikov ◽  
Olga Jasnovidova ◽  
Tiina Tamm ◽  
Juhan Sedman
Keyword(s):  
Mitochondrial Dna ◽  
Dna Polymerase ◽  
Mitochondrial Dna Polymerase ◽  
Yeast Mitochondrial Dna ◽  
Synthesis And Degradation

scholarly journals Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy

2017 ◽  
Vol 18 (1) ◽  
pp. 52-56
Author(s):  
Tahira N Choudry ◽  
David Hilton-Jones ◽  
Graham Lennox ◽  
Henry Houlden
Keyword(s):  
Autosomal Recessive ◽  
Age Of Onset ◽  
Axonal Neuropathy ◽  
Elevated Serum ◽  
Cerebellar Atrophy ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia ◽  
Oculomotor Apraxia ◽  
Ataxia With Oculomotor Apraxia

A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich’s ataxia and is due to mutations in the senataxin (SETX) gene. The age of onset is approximately 15 years.The diagnosis of oculomotor apraxia type 2 is often challenging. We provide a framework for assessing a young ataxic patient with or without oculomotor apraxia and review clues that will aid diagnosis. The prognosis, level of disability, cancer and immunosuppression risk all markedly differ between the conditions. Patients and their families need the correct diagnosis for genetic counselling, management and long-term surveillance with appropriate subspecialty services.

Further characterization of a mitochondrial DNA polymerase from Hela cells

1976 ◽  
Vol 70 (2) ◽  
pp. 559-566 ◽  
Author(s):  
Klaus Radsak ◽  
Karl-Werner Knopf ◽  
Arthur Weissbach
Keyword(s):  
Mitochondrial Dna ◽  
Dna Polymerase ◽  
Hela Cells ◽  
Mitochondrial Dna Polymerase

The expanding clinical and pathologic spectrum of mitochondrial DNA polymerase gamma mutations

2007 ◽  
Vol 66 (5) ◽  
pp. 437
Author(s):  
Michael A. Farrell ◽  
Rachel Howley ◽  
Yazan Alderazi ◽  
Francesca Brett ◽  
Joan Moroney ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Dna Polymerase ◽  
Polymerase Gamma ◽  
Dna Polymerase Gamma ◽  
Mitochondrial Dna Polymerase
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