| 1. |
- Kotarsky, Heike, et al.
(författare)
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BCS1L is expressed in critical regions for neural development during ontogenesis in mice.
- 2007
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Ingår i: Gene Expression Patterns. - : Elsevier BV. - 1567-133X. ; 7, s. 266-273
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Tidskriftsartikel (refereegranskat)abstract
- BCS1L is a chaperone necessary for the incorporation of Rieske Fes and Qcr10p into complex III (CIII) of the respiratory chain. Mutations in the BCS1L gene cause early fetal growth restriction and a lethal neonatal disease in humans, however, the pathogenesis remains unclear. Here, we analysed the expression of BCS1L during mouse embryonic development and compared its expression with that of the mitochondrial markers Porin, GRIM 19, Core 1, and Rieske Fes. BCS1L was strongly expressed in embryonic tissues already at embryonic days 7 (E7) and 9 whereas the expression of Porin and Rieske Fes was not as evident at this time point. At E 11, BCS1L, Porin, and Rieske Fes had overlapping expression patterns in organs known to contain high numbers of mitochondria such as heart, liver and somites. In contrast, BCS1L was differently distributed compared to the mitochondrial proteins Porin, Rieske FeS, Core I and Grim 19 in the floor plate of the E 11, E 12 and E 13 neural tube. These results show that the expression pattern of BCS1L only partially overlaps with the expression of Porin and Rieske Fes. Thus, BCS1L alone or in cooperation with Rieske FES may during development have previously unknown functions beside its role in assembly of complex III. The floor plate of the neural tube is essential for dorsal ventral patterning and the guidance of the developing neurons to their targets. The predominant expression of BCS1L in this region, together with its presence in peripheral ganglia from E13 onwards, indicates a role for BCS1L in the development of neural structures. (c) 2006 Elsevier B.V. All rights reserved.
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| 2. |
- Fellman, Vineta, et al.
(författare)
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Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
- 2008
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Ingår i: Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1434-5161 .- 1435-232X. ; 53:6, s. 554-558
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Tidskriftsartikel (refereegranskat)abstract
- The BCS1L gene encodes a chaperone responsible for assembly of respiratory chain complex III (CIII). A homozygous point mutation (232A -> G) has been found as the genetic etiology for fetal growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (GRACILE) syndrome (MIM 603358). Variable phenotypes have been found with other mutations. Our aim was to assess whether 232A -> G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder. A further aim was to confirm the GRACILE genotype-phenotype constancy (n = 8). Three new cases with homozygous 232A -> G mutation were identified; all had the primary GRACILE characteristics. No other mutations were found in the gene in other cases. All infants with GRACILE syndrome had the typical mutation. In conclusion, the rather homogenous population of Finns seems to have a specific BCS1L mutation that, as homozygous state, causes GRACILE syndrome, whereas other mutations are rare or not occurring. Thus, the novel clinical implication of this study is to screen for BCS1L mutations only if CIII is dysfunctioning or lacking Rieske protein, and to assess 232A -> G mutation in cases with GRACILE syndrome.
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| 3. |
- Holmqvist-Jämsén, Sofia, et al.
(författare)
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Screen11: validating a screening instrument for voice disorders in accordance with the COSMIN framework
- 2024
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Ingår i: Logopedics, Phoniatrics, Vocology. - : Taylor & Francis. - 1401-5439 .- 1651-2022.
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Although numerous patient-reported outcome measures have been developed and validated to quantify the impact of voice problems on different aspects of life, to our knowledge no screening instrument exists that specifically captures voice disorders in a retrospective fashion. The aim of the present study was to examine the psychometric properties and diagnostic validity of a retrospective voice screening method, Screen11, according to the COSMIN framework for health-related, patient-reported outcome measures. The items in Screen11 have been used to establish the prevalence of voice disorders in both general and occupation-specific populations in the Nordic countries. However, the instrument has not been validated.Methods: The voice patient group (n = 54) in this study comprised of patients from the Turku University Central Hospital phoniatric outpatient clinic seeking help for their voice problems. For these voice patients, we recruited voice-healthy controls (n = 61) who matched in terms of gender, age, and occupation. The participants responded to the Screen11 questionnaire along with the VHI and the VAPP.Results: The results of the initial exploratory factor analysis showed that all the Screen11 items loaded on a common underlying latent factor. Furthermore, Screen11 had high internal consistency (α =.93) and correlated sufficiently with other voice questionnaires.Conclusions: The results indicate that Screen11, which screens for possible voice disorders at an early stage, was successfully validated. With respect to its diagnostic validity, the Screen11 sum score is preferable. A threshold of ≥ 15 should be used for differentiating patients with possible voice disorders from those with healthy voices.
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