Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings

1997 ◽  
pp. 40-47 ◽  
Author(s):  
GC Korenke ◽  
C Roth ◽  
E Krasemann ◽  
M Hufner ◽  
DH Hunneman ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Molecular Genetic ◽  
Neurological Symptoms ◽  
Beta Oxidation ◽  
Peroxisomal Membrane ◽  
Molecular Genetic Data ◽  
Neurological Phenotype ◽  
Hereditary Factors ◽  
Endocrinological Symptoms ◽  
Ald Gene

X-linked adrenoleucodystrophy (ALD) has been shown to be one of the most frequent causes of Addison's disease in men. It is characterized by an impaired peroxisomal beta-oxidation of very long chain fatty acids and is associated with mutations of the ALD gene resulting in a defective peroxisomal membrane transport protein. There is a striking variability of endocrinological and neurological symptoms in patients with ALD, with no clearly evident correlation between mutations of the ALD gene and the different neurological phenotypes. No data on endocrinological symptoms and the ALD genotype have been published so far. We report endocrinological, clinical, laboratory and molecular genetic data from 55 patients with ALD from 34 families. Endocrinological symptoms of adrenal insufficiency were observed in 33 patients, 20 of whom showed additional neurological symptoms of cerebral ALD or adrenomyeloneuropathy. Isolated neurological symptoms were seen in 12 patients; in nine patients there were neither endocrinological nor neurological symptoms. Mutations of the ALD gene (n = 28) were detected in 50 patients (including nine sets of brothers) from 32 families. No correlation was found between the ALD gene mutation and endocrinological dysfunction. However, we found that all sets of brothers were concordant for the endocrinological phenotype (cortisol synthesis was reduced in two sets and normal in seven sets), whereas four sets showed a discordant neurological phenotype. As yet unknown hereditary factors other than mutations within the ALD gene may interfere with the endocrinological phenotype more strongly than with the neurological phenotype of ALD.

scholarly journals Mevalonate kinase deficiency syndrome: Single center experience

2021 ◽  
Vol 59 (3) ◽  
pp. 326-334
Author(s):  
A. L. Kozlova ◽  
V. O. Bludova ◽  
V. I. Burlakov ◽  
E. V. Raykina ◽  
T. V. Varlamova ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Deficiency Syndrome ◽  
Compound Heterozygous ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Single Center Experience ◽  
Full Remission ◽  
Molecular Genetic Data

The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods. The age of MKD manifestation ranged from 0 to 30.0 months (M – 1.5 months). Clinical manifestations and their severity were extremely diverse: from symptoms resembling Marshall’s syndrome to severe systemic manifestations with respiratory failure, hepatosplenomegaly and pancytopenia.Results/Conclusion. All patients had homozygous/compound-heterozygous mutations in the MVK gene, including 10 newly described variants. In all 20 patients, who have been treated with IL-1 inhibitors long enough to assess the effect of the treatment, drastic improvement of the condition was noted, but only in 17/20 patients achieved full remission.

scholarly journals Identification of kinship and occupant status in Mongolian noble burials of the Yuan Dynasty through a multidisciplinary approach

2015 ◽  
Vol 370 (1660) ◽  
pp. 20130378 ◽  
Author(s):  
Yinqiu Cui ◽  
Li Song ◽  
Dong Wei ◽  
Yuhong Pang ◽  
Ning Wang ◽  
...  
Keyword(s):  
Multidisciplinary Approach ◽  
Molecular Genetic ◽  
Yuan Dynasty ◽  
Minority Ethnic Group ◽  
Chinese History ◽  
Chromosomal Dna ◽  
Molecular Genetic Data ◽  
First Dynasty ◽  
Historical Sites ◽  
The Yuan Dynasty

The Yuan Dynasty (AD 1271–1368) was the first dynasty in Chinese history where a minority ethnic group (Mongols) ruled. Few cemeteries containing Mongolian nobles have been found owing to their tradition of keeping burial grounds secret and their lack of historical records. Archaeological excavations at the Shuzhuanglou site in the Hebei province of China led to the discovery of 13 skeletons in six separate tombs. The style of the artefacts and burials indicate the cemetery occupants were Mongol nobles. However, the origin, relationships and status of the chief occupant (M1m) are unclear. To shed light on the identity of the principal occupant and resolve the kin relationships between individuals, a multidisciplinary approach was adopted, combining archaeological information, stable isotope data and molecular genetic data. Analysis of autosomal, mitochondrial and Y-chromosomal DNA show that some of the occupants were related. The available evidence strongly suggests that the principal occupant may have been the Mongol noble Korguz. Our study demonstrates the power of a multidisciplinary approach in elucidating information about the inhabitants of ancient historical sites.

scholarly journals Social Science Genetics and Fertility

2018 ◽  
Author(s):  
Felix C Tropf
Keyword(s):  
Molecular Genetic ◽  
Age At First Birth ◽  
Life Outcomes ◽  
Environment Change ◽  
Fertility Choice ◽  
Number Of Children ◽  
Human Fertility ◽  
First Child ◽  
Molecular Genetic Data ◽  
The Social

To what extent do genes influence the age at which you have your first child and the total number of children that you have? Does the (social) environment change genetic effects on fertility? Do genes lead to spurious associations between life outcomes such as education and age at first birth? The social sciences have been reticent to integrate a genetic approach to the study of fertility choice and behaviour, resulting in theories and findings that are largely socially deterministic. This dissertation investigates genetic and environmental influences on human fertility—aswell as their interplay—using both twin data as well as molecular genetic data of more than 31,000 genotyped individuals from 6 countries.

scholarly journals Filling gaps in the DNA barcode library - Aquatic insects (Ephemeroptera, Plecoptera, Trichoptera) from semi-mountainous and mountainous rivers of Ecoregion 6 (North Macedonia)

2021 ◽  
Vol 4 ◽  
Author(s):  
Biljana Rimcheska ◽  
Yanka Vidinova
Keyword(s):  
New Species ◽  
Dna Barcoding ◽  
Aquatic Insects ◽  
Molecular Genetic ◽  
Dna Barcode ◽  
Balkan Peninsula ◽  
Molecular Genetic Data ◽  
Medium Quality ◽  
Total Dna ◽  
Data Library

This research provides pivotal molecular genetic data on the community structure of aquatic insects from semi-mountainous and mountainous rivers from the 6th Ecoregion that belongs to the territory of North Macedonia. The aim of this research is to fill the gaps for barcoding the aquatic macroinvertebrates from the Balkan Peninsula and check if the existing barcode library could provide improved identifications for the specimens that were not taxonomically determined to the lowest level possible. We analyzed 95 specimens from which total DNA was extracted and the COI barcode region amplified and sequenced. The taxa were selected from 20 different localities of the territory of western part of North Macedonia. The selected specimens were not determined to species-level in order to test the efficiency of the DNA barcoding methodology and what is missing in the DNA barcoding data library. From the result from one plate (95 specimens) we obtained: 16 samples without barodes, or failed and 10 samples did not have a match in the BOLD database. In the remining 69 samples, three were misidentified. In the total of 69 barcoded species new for the fauna of North Macedonia, 11 are mayflies: Baetis melanonyx, Ecdyonurus vitoshensis, E. macani; stonefly Isoperla vjose; and caddisflies: Agapetus delicatulus, Athripsodes bilineatus, Glossosoma klotho, Lepidostoma basale, Helicopsyche bacescui, Tinodes unicolor and Odontocerum hellenicum. We have also four rarely found species: Zwicknia bifrons, Drussus tenellus, Hydropsyche botosaneanui and Hydropsyche bulbifera, and one species without barcode available as Ecdyonurus sp. SK2 (potential new species). We found 83% efficiency of DNA barcoding, where some samples failed or were with low or medium quality for some specimens, as for the representatives from the genera Baetis, Oxietyra and Rhyacophila. In conclusion we can confirm that 10 of the selected vouchers need to be further identified by morphology and to be added in the BOLD barcode library, and maybe we'll have the possibility to describe a new species as well.

Contribution of molecular genetic data to the classification of sarcomas

2000 ◽  
Vol 31 (5) ◽  
pp. 532-538 ◽  
Author(s):  
Marc Ladanyi ◽  
Julia A. Bridge
Keyword(s):  
Molecular Genetic ◽  
Genetic Data ◽  
Molecular Genetic Data

scholarly journals Blood thicker than water: kinship, disease prevalence and group size drive divergent patterns of infection risk in a social mammal

2016 ◽  
Vol 283 (1835) ◽  
pp. 20160798 ◽  
Author(s):  
Clare H. Benton ◽  
Richard J. Delahay ◽  
Andrew Robertson ◽  
Robbie A. McDonald ◽  
Alastair J. Wilson ◽  
...  
Keyword(s):  
Disease Transmission ◽  
Molecular Genetic ◽  
Social Groups ◽  
Herd Immunity ◽  
Dilution Effect ◽  
Meles Meles ◽  
Infection Risk ◽  
Susceptibility To Infection ◽  
Molecular Genetic Data ◽  
Herd Immunity Effect

The importance of social- and kin-structuring of populations for the transmission of wildlife disease is widely assumed but poorly described. Social structure can help dilute risks of transmission for group members, and is relatively easy to measure, but kin-association represents a further level of population sub-structure that is harder to measure, particularly when association behaviours happen underground. Here, using epidemiological and molecular genetic data from a wild, high-density population of the European badger ( Meles meles ), we quantify the risks of infection with Mycobacterium bovis (the causative agent of tuberculosis) in cubs. The risk declines with increasing size of its social group, but this net dilution effect conceals divergent patterns of infection risk. Cubs only enjoy reduced risk when social groups have a higher proportion of test-negative individuals. Cubs suffer higher infection risk in social groups containing resident infectious adults, and these risks are exaggerated when cubs and infectious adults are closely related. We further identify key differences in infection risk associated with resident infectious males and females. We link our results to parent–offspring interactions and other kin-biased association, but also consider the possibility that susceptibility to infection is heritable. These patterns of infection risk help to explain the observation of a herd immunity effect in badgers following low-intensity vaccination campaigns. They also reveal kinship and kin-association to be important, and often hidden, drivers of disease transmission in social mammals.

A new genus, Perplexacara, and new generic placements of species of Australian marsh beetles (Coleoptera: Scirtidae) based on morphology and molecular genetic data

Zootaxa ◽  
2021 ◽  
Vol 4927 (4) ◽  
pp. 539-548
Author(s):  
C.H.S. WATTS ◽  
T.M. BRADFORD ◽  
S.J.B. COOPER
Keyword(s):  
New Genus ◽  
Sequence Data ◽  
Mitochondrial Gene ◽  
Molecular Genetic ◽  
Elongation Factor ◽  
New Combination ◽  
Cytochrome Oxidase Subunit ◽  
Molecular Genetic Data ◽  
Elongation Factor 1 Alpha ◽  
Elongation Factor 1

The Australian Scirtidae species previously identified as misplaced in the widespread genus Prionocyphon Redtenbacher are revisited as well as their possible relationship with the Australian genus Macrodascillus (Lea) using sequence data from the mitochondrial gene, cytochrome oxidase subunit 1 and two nuclear genes, elongation factor 1-alpha and Topoisomerase. The study confirmed the conclusion of Cooper et al. (2014) that the species did not belong in Prionocyphon. The study also included a species from each of three possibly related genera, Chameloscyphon Watts, Daploeuros Watts and Dasyscyphon Watts. Chameloscyphon huonensis Watts, Dasyscyphon victoriaensis Watts and Daploeuros lamingtonensis Watts were recovered as separate lineages with C. huonensis linking with Das. victoriaensis and Dap. lamingtonensis isolated. The species previously included in Prionocyphon were shown to belong in two genera, Macrodascillus and a new genus Perplexacara: Perplexacara caementum (Watts) new combination, P. latusmandibulara (Watts) new combination, P. macroflavida (Watts) new combination, Macrodascillus scalaris (Lea), M. insolitus (Watts) new combination and M. lamingtonensis (Watts) new combination. 

scholarly journals The Mediation Role of Dynamic Multisensory Processing Using Molecular Genetic Data in Dyslexia

2020 ◽  
Vol 10 (12) ◽  
pp. 993
Author(s):  
Sara Mascheretti ◽  
Valentina Riva ◽  
Bei Feng ◽  
Vittoria Trezzi ◽  
Chiara Andreola ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Auditory Processing ◽  
Visual Motion ◽  
Multisensory Processing ◽  
Molecular Genetic ◽  
Rapid Automatized Naming ◽  
Motion Processing ◽  
Visual Motion Processing ◽  
Molecular Genetic Data ◽  
Rapid Auditory Processing

Although substantial heritability has been reported and candidate genes have been identified, we are far from understanding the etiopathogenetic pathways underlying developmental dyslexia (DD). Reading-related endophenotypes (EPs) have been established. Until now it was unknown whether they mediated the pathway from gene to reading (dis)ability. Thus, in a sample of 223 siblings from nuclear families with DD and 79 unrelated typical readers, we tested four EPs (i.e., rapid auditory processing, rapid automatized naming, multisensory nonspatial attention and visual motion processing) and 20 markers spanning five DD-candidate genes (i.e., DYX1C1, DCDC2, KIAA0319, ROBO1 and GRIN2B) using a multiple-predictor/multiple-mediator framework. Our results show that rapid auditory and visual motion processing are mediators in the pathway from ROBO1-rs9853895 to reading. Specifically, the T/T genotype group predicts impairments in rapid auditory and visual motion processing which, in turn, predict poorer reading skills. Our results suggest that ROBO1 is related to reading via multisensory temporal processing. These findings support the use of EPs as an effective approach to disentangling the complex pathways between candidate genes and behavior.

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