Page last updated: 2024-10-16

adenine and MELAS

adenine has been researched along with MELAS in 10 studies

Research Excerpts

ExcerptRelevanceReference
"This mutation can also cause MELAS syndrome (which encompasses mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke), and other genetic factors may contribute to the clinical expression."1.34A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. ( Bettink-Remeijer, MW; de Coo, IF; Hendrickx, A; Hintzen, RQ; Maat-Kievit, A; Schoonderwoerd, KC; Sluiter, W; Smeets, HJ; Spruijt, L, 2007)
"MELAS is a multisystem disorder inherited by the mitochondrial DNA with onset typically in childhood."1.32[Phenotypic variants of A3243G mitochondrial DNA mutation in a Hungarian family]. ( Bene, J; Havasi, V; Herczegfalvi, A; Komlósi, K; Melegh, B; Móser, J; Tihanyi, M, 2004)
"The patients with MELAS had lower mutation levels as well as a lower proportion of RRF, and these two parameters were even lower in the PEO and MDM patients."1.31Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes. ( Akita, Y; Iwanaga, R; Kato, H; Koga, A; Koga, Y; Matsuishi, T; Sato, Y; Takane, N; Tubone, J, 2000)
"The majority of patients with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) have an A-->G mutation at nucleotide 3243 in mitochondrial transfer (t)RNA."1.30Clinical, physiological, and histological features in a kindred with the T3271C melas mutation. ( Applegarth, D; Maguire, J; Myint, T; Robinson, BH; Tarnopolsky, MA, 1998)
"I analyzed this mutation in a Japanese MELAS pedigree by PCR."1.29Did de novo MELAS common mitochondrial DNA point mutation (mtDNA 3243, A-->G transition) occur in the mother of a proband of a Japanese MELAS pedigree? ( Yamamoto, M, 1996)

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's5 (50.00)18.2507
2000's5 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Park, H1
Davidson, E1
King, MP1
Komlósi, K1
Bene, J1
Havasi, V1
Tihanyi, M1
Herczegfalvi, A1
Móser, J1
Melegh, B1
Spruijt, L1
Smeets, HJ1
Hendrickx, A1
Bettink-Remeijer, MW1
Maat-Kievit, A1
Schoonderwoerd, KC1
Sluiter, W1
de Coo, IF1
Hintzen, RQ1
Betts, J1
Barron, MJ1
Needham, SJ1
Schaefer, AM1
Taylor, RW1
Turnbull, DM1
Sakuta, R1
Goto, Y1
Nonaka, I1
Horai, S1
Feigenbaum, A1
Chitayat, D1
Robinson, B1
MacGregor, D1
Myint, T2
Arbus, G1
Nowaczyk, MJ1
Yamamoto, M1
Tarnopolsky, MA1
Maguire, J1
Applegarth, D1
Robinson, BH1
Latkany, P1
Ciulla, TA1
Cacchillo, PF1
Malkoff, MD1
Koga, Y1
Koga, A1
Iwanaga, R1
Akita, Y1
Tubone, J1
Matsuishi, T1
Takane, N1
Sato, Y1
Kato, H1

Other Studies

10 other studies available for adenine and MELAS

ArticleYear
The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
    Biochemistry, 2003, Feb-04, Volume: 42, Issue:4

    Topics: Acylation; Adenine; Base Sequence; Cell Line; Cytosine; Guanine; Humans; Leucine-tRNA Ligase; MELAS

2003
[Phenotypic variants of A3243G mitochondrial DNA mutation in a Hungarian family].
    Orvosi hetilap, 2004, Aug-29, Volume: 145, Issue:35

    Topics: Adenine; Child; DNA Mutational Analysis; DNA, Mitochondrial; Female; Genetic Variation; Guanine; Hea

2004
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
    Archives of neurology, 2007, Volume: 64, Issue:6

    Topics: Adenine; Adult; DNA, Mitochondrial; Dystonia; Female; Guanine; Humans; MELAS Syndrome; Muscle Spasti

2007
Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation.
    Neurology, 2008, Apr-08, Volume: 70, Issue:15

    Topics: Adenine; Adult; Base Sequence; DNA Mutational Analysis; DNA, Mitochondrial; Electron Transport Compl

2008
An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism.
    American journal of human genetics, 1993, Volume: 53, Issue:4

    Topics: Adenine; DNA, Mitochondrial; Guanine; Humans; MELAS Syndrome; Mutation; Polymorphism, Genetic

1993
The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.
    American journal of medical genetics, 1996, Apr-24, Volume: 62, Issue:4

    Topics: Abnormalities, Multiple; Adenine; Adult; Anus, Imperforate; Base Sequence; DNA, Mitochondrial; Femal

1996
Did de novo MELAS common mitochondrial DNA point mutation (mtDNA 3243, A-->G transition) occur in the mother of a proband of a Japanese MELAS pedigree?
    Journal of the neurological sciences, 1996, Volume: 135, Issue:1

    Topics: Adenine; Adult; Aged; Aged, 80 and over; Alzheimer Disease; Base Sequence; Family Health; Female; Gu

1996
Clinical, physiological, and histological features in a kindred with the T3271C melas mutation.
    Muscle & nerve, 1998, Volume: 21, Issue:1

    Topics: Adenine; Adult; Biopsy, Needle; Child, Preschool; Cytosine; DNA; DNA, Mitochondrial; Female; Forearm

1998
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation.
    American journal of ophthalmology, 1999, Volume: 128, Issue:1

    Topics: Adenine; Atrophy; Deafness; DNA, Mitochondrial; Electroretinography; Female; Guanine; Humans; Macula

1999
Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes.
    Acta neuropathologica, 2000, Volume: 99, Issue:2

    Topics: Adenine; Adult; Child; Diabetes Mellitus; DNA, Mitochondrial; Guanine; Humans; Leigh Disease; MELAS

2000