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Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art 总被引:4,自引:3,他引:4
Smeitink JA; Loeffen JL; Triepels RH; Smeets RJ; Trijbels JM; van den Heuvel LP 《Human molecular genetics》1998,7(10):1573-1579
The mitochondrial electron transport chain (mtETC) consists of four
multi-subunit enzyme complexes. Complex I or NADH:ubiquinone
oxidoreductase, the largest mtETC multisubunit complex, consists of
approximately 41 subunits. Seven of these subunits are encoded by the
mitochondrial genome, the remainder by the nuclear genome. Among the
mitochondriocytopathies, complex I deficiencies are encountered frequently.
Although some complex I deficiencies have been associated with
mitochondrial DNA mutations, the genetic defect has not been elucidated in
the majority of complex I-deficient patients. It is expected that many of
these patients have mutations in the nuclear- encoded subunits of this
complex, so vital for cellular energy production. After a brief summary of
the current knowledge of complex I from cow, bacteria and fungi, this
review presents the state of the art of the knowledge of the human
nuclear-encoded complex I genes which, in the last 18 months, has made
enormous progress. At present, the complete gene structure of four subunits
and the cDNA structure of 18 of the 34 complex I nuclear-encoded subunits
are known. Mapping of these subunits shows a random distribution over the
chromosomes. The chromosomal localization is known for 14 complex I genes.
Recently, the first mutation, a 5 bp duplication in the 18 kDa (AQDQ)
subunit, has been reported. We expect that within 1 year all human
nuclear-encoded complex I subunits will be cloned. Mutational analysis of
these subunits is warranted in complex I-deficient patients and will not
only be important for genetic counselling but will also extend the
knowledge regarding the functional properties of the individual human
complex I subunits.
相似文献
334.
Maria Vassilaki MD MPH PhD Jeremiah A. Aakre MPH Ruth H. Cha MS Walter K. Kremers PhD Jennifer L. St. Sauver PhD MPH Michelle M. Mielke PhD Yonas E. Geda MD MSc Mary M. Machulda PhD LP David S. Knopman MD Ronald C. Petersen MD PhD Rosebud O. Roberts MB ChB MS 《Journal of the American Geriatrics Society》2015,63(9):1783-1790
335.
Walter Espeche Martin R. Salazar Rodrigo Sabio Alejandro Diaz Carlos Leiva Sisnieguez Daniel Olano Eduardo Balbin Nicolas Renna Pedro Grosse Roberto A. Flores Ana C. Lagos Pablo Ferrer Silvia Poppe Facundo Risso Patron Victor D. Sotnieczuk Stasiuk Elina Valentini Jose R. Cardozo Jose R. Romano Roberto Parodi Horacio Carbajal 《Journal of clinical hypertension (Greenwich, Conn.)》2020,22(4):656-662
Adherence to antihypertensive medication is an important challenge that doctors often face in the treatment of hypertension. Good adherence is crucial to prevent cardiovascular complications. In consequence, the present study aimed at determining the prevalence of adherence to antihypertensive treatment and identifying associated clinical variables. A multicenter cross‐sectional study was conducted in 12 cities of Argentina. A systematic sampling was performed in order to select patients with hypertension and under pharmacological treatment for at least 6 months. Physicians took three BP measurements, and the level of adherence was assessed using the self‐administered Morisky questionnaire (MMAS‐8). Participants were classified into three levels of adherence: high adherence—MMAS score of 8; medium adherence—MMAS scores of 6 to <8; and low adherence—MMAS scores of <6. A total of 1111 individuals (62 ± 12 years old, women 49.4%) were included in the present analysis; 159 (14.3%), 329 (29.6%) and 623 (56.1%) patients had low, medium, and high adherence, respectively. The prevalence of controlled hypertension increased only in high adherent patients: 42.8%, 42.2%, and 64.5% for low, medium, and high adherence groups, respectively. Similarly, systolic BP was lower only in the high adherence group. High educational level (OR 3.47, 95% CI 2.68‐4.49) and diuretic treatment (OR 0.64, 95% CI 0.47‐0.88) were independent predictors of high adherence. In conclusion, more than a half of treated hypertensive patients had a high level of adherence. These patients had lower BP values and higher control levels. A high educational level predicts high adherence. 相似文献
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O'DONOGHUE DJ; LAWLER W; HUNT LP; ACHESON EJ; MALLICK NP 《QJM : monthly journal of the Association of Physicians》1991,79(1):333-350
Fifty-four adults with primary mesangial proliferative glomerulonephritisand IgM deposition were observed for a minimum of three yearsor until end-stage renal failure. The actuarial renal survivalwas 80 per cent at 5 years and 64 per cent at 10 years; multivariateanalysis identified microscopic haematuria, extent of mesangialproliferation and global glomerular sclerosis as independentprognostic indicators. 相似文献
338.
Mutations in N-ras predominate in acute myeloid leukemia 总被引:15,自引:5,他引:15
Bos JL; Verlaan-de Vries M; van der Eb AJ; Janssen JW; Delwel R; Lowenberg B; Colly LP 《Blood》1987,69(4):1237-1241
Using synthetic oligomers we investigated fresh samples of acute myeloid leukemia (AML) for the presence of mutated ras oncogenes. Our original results showed that five of eight samples contained a mutation in codon 13 of the N-ras gene. In a subsequent study involving 37 samples, we found only one N-ras-13 mutation, and, in addition, mutations in codon 61 of the N-ras gene in four cases and a mutation in codon 12 of the Ki-ras gene in two cases. Amplification of ras genes was not observed. We conclude that in approximately 20% to 25% of AML cases, a mutated ras oncogene is present, predominantly the N-ras gene. The occurrence of mutations does not correlate with the cytological features of the leukemia. 相似文献
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