adenine has been researched along with MELAS Syndrome in 10 studies
MELAS Syndrome: A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
| Excerpt | Relevance | Reference |
|---|---|---|
| "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." | 1.34 | A 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." | 1.31 | Single-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." | 1.30 | Clinical, 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." | 1.29 | 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? ( Yamamoto, M, 1996) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 5 (50.00) | 18.2507 |
| 2000's | 5 (50.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Park, H | 1 |
| Davidson, E | 1 |
| King, MP | 1 |
| Komlósi, K | 1 |
| Bene, J | 1 |
| Havasi, V | 1 |
| Tihanyi, M | 1 |
| Herczegfalvi, A | 1 |
| Móser, J | 1 |
| Melegh, B | 1 |
| Spruijt, L | 1 |
| Smeets, HJ | 1 |
| Hendrickx, A | 1 |
| Bettink-Remeijer, MW | 1 |
| Maat-Kievit, A | 1 |
| Schoonderwoerd, KC | 1 |
| Sluiter, W | 1 |
| de Coo, IF | 1 |
| Hintzen, RQ | 1 |
| Betts, J | 1 |
| Barron, MJ | 1 |
| Needham, SJ | 1 |
| Schaefer, AM | 1 |
| Taylor, RW | 1 |
| Turnbull, DM | 1 |
| Sakuta, R | 1 |
| Goto, Y | 1 |
| Nonaka, I | 1 |
| Horai, S | 1 |
| Feigenbaum, A | 1 |
| Chitayat, D | 1 |
| Robinson, B | 1 |
| MacGregor, D | 1 |
| Myint, T | 2 |
| Arbus, G | 1 |
| Nowaczyk, MJ | 1 |
| Yamamoto, M | 1 |
| Tarnopolsky, MA | 1 |
| Maguire, J | 1 |
| Applegarth, D | 1 |
| Robinson, BH | 1 |
| Latkany, P | 1 |
| Ciulla, TA | 1 |
| Cacchillo, PF | 1 |
| Malkoff, MD | 1 |
| Koga, Y | 1 |
| Koga, A | 1 |
| Iwanaga, R | 1 |
| Akita, Y | 1 |
| Tubone, J | 1 |
| Matsuishi, T | 1 |
| Takane, N | 1 |
| Sato, Y | 1 |
| Kato, H | 1 |
10 other studies available for adenine and MELAS Syndrome
| Article | Year |
|---|---|
The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation.
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].
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.
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.
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.
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.
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?
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.
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.
Topics: Adenine; Atrophy; Deafness; DNA, Mitochondrial; Electroretinography; Female; Guanine; Humans; Macula | 1999 |
Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes.
Topics: Adenine; Adult; Child; Diabetes Mellitus; DNA, Mitochondrial; Guanine; Humans; Leigh Disease; MELAS | 2000 |