adenine has been researched along with Leigh Disease in 2 studies
Leigh Disease: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report a pedigree of adult-onset Leigh syndrome (LS) with mitochondrial mutation 8344 A>G." | 1.40 | Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation. ( Han, JY; Lee, KW; Park, HK; Sung, JJ; Yoon, BN, 2014) |
| "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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (50.00) | 29.6817 |
| 2010's | 1 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Han, JY | 1 |
| Sung, JJ | 1 |
| Park, HK | 1 |
| Yoon, BN | 1 |
| Lee, KW | 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 |
2 other studies available for adenine and Leigh Disease
| Article | Year |
|---|---|
Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation.
Topics: Adenine; Adult; Age of Onset; Brain; Cognitive Dysfunction; Diffusion Magnetic Resonance Imaging; DN | 2014 |
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 |