scholarly journals LIPID DEFICIENCIES, LEUKOCYTOSIS, BRITTLE SKIN—A LETHAL SYNDROME CAUSED BY A RECESSIVE MUTATION, EDEMATOUS (OED), IN THE MOUSE

Genetics ◽  
1975 ◽  
Vol 81 (3) ◽  
pp. 525-536
Author(s):  
Michael B Schiffman ◽  
Maria L Santorineou ◽  
Susan E Lewis ◽  
Howard A Turchin ◽  
Salome Gluecksohn-Waelsch
Keyword(s):  
Lipid Metabolism ◽  
Serum Lipids ◽  
Autosomal Recessive ◽  
Biochemical Analysis ◽  
Liver Cholesterol ◽  
Recessive Mutation ◽  
Phenotypic Characteristics ◽  
Normal Limits ◽  
Mode Of Inheritance ◽  
Severe Disturbance

ABSTRACT A new neonatal lethal mutation in the mouse with pleiotropic effects, edematous (oed), arose spontaneously in the phocomelic strain and has been shown to have an autosomal recessive mode of inheritance. The external phenotypic characteristics include a generally bloated appearance, shiny cellophane-like skin, and distal hematomata of the extremities. Internally, no gross or histological abnormalities could be identified, with the exception of a striking leukocytosis. Biochemical analysis revealed a severe disturbance of lipid metabolism. Deficiencies in the VLDL, LDL, and the HDL lipoprotein fractions have been found in the mutant plasma. In addition, all serum lipids are markedly decreased. However, in the mutant liver, only triglycerides are significantly decreased; total liver cholesterol and phospholipid values are within normal limits. The primary biochemical defect as well as the causal relationship between the striking abnormalities of lipid metabolism and those of skin and blood are unknown at this time.

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

2018 ◽  
Vol 55 (12) ◽  
pp. 814-823 ◽  
Author(s):  
Vincenzo Lupo ◽  
Marina Frasquet ◽  
Ana Sánchez-Monteagudo ◽  
Ana Lara Pelayo-Negro ◽  
Tania García-Sobrino ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Late Onset ◽  
Axonal Neuropathy ◽  
Genetic Diagnosis ◽  
Hereditary Neuropathy ◽  
Motor Neuropathy ◽  
Charcot Marie Tooth Disease ◽  
Hereditary Motor Neuropathy ◽  
Index Cases ◽  
Mode Of Inheritance

BackgroundMutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other late-onset autosomal dominant polyneuropathies. Thus, our goal was to define the phenotype and mode of inheritance of patients carrying changes in MME.MethodsWe screened 197 index cases with a hereditary neuropathy of the CMT type or distal hereditary motor neuropathy (dHMN) and 10 probands with familial amyotrophic lateral sclerosis (fALS) using a custom panel of 119 genes. In addition to the index case subjects, we also studied other clinically and/or genetically affected and unaffected family members.ResultsWe found 17 variants in MME in a total of 20 index cases, with biallelic MME mutations detected in 13 cases from nine families (three in homozygosis and six in compound heterozygosis) and heterozygous variants found in 11 families. All patients with biallelic variants had a similar phenotype, consistent with late-onset axonal neuropathy. Conversely, the phenotype of patients carrying heterozygous mutations was highly variable [CMT type 1 (CMT1), CMT2, dHMN and fALS] and mutations did not segregate with the disease.ConclusionMME mutations that segregate in an autosomal recessive pattern are associated with a late-onset CMT2 phenotype, yet we could not demonstrate that MME variants in heterozygosis cause neuropathy. Our data highlight the importance of establishing an accurate genetic diagnosis in patients carrying MME mutations, especially with a view to genetic counselling.

scholarly journals Altered Clock and Lipid Metabolism-Related Genes in Atherosclerotic Mice Kept with Abnormal Lighting Condition

2016 ◽  
Vol 2016 ◽  
pp. 1-14 ◽  
Author(s):  
Zhu Zhu ◽  
Bingxuan Hua ◽  
Zhanxian Shang ◽  
Gongsheng Yuan ◽  
Lirong Xu ◽  
...  
Keyword(s):  
Lipid Metabolism ◽  
Serum Lipids ◽  
Clock Genes ◽  
Plaque Formation ◽  
Sirtuin 1 ◽  
Atheromatous Plaque ◽  
Circadian Oscillation ◽  
Lighting Condition ◽  
Apoe Ko Mice ◽  
Apoe Ko

Background. The risk of atherosclerosis is elevated in abnormal lipid metabolism and circadian rhythm disorder. We investigated whether abnormal lighting condition would have influenced the circadian expression of clock genes and clock-controlled lipid metabolism-related genes in ApoE-KO mice.Methods. A mouse model of atherosclerosis with circadian clock genes expression disorder was established using ApoE-KO mice (ApoE-KO LD/DL mice) by altering exposure to light. C57 BL/6J mice (C57 mice) and ApoE-KO mice (ApoE-KO mice) exposed to normal day and night and normal diet served as control mice. According to zeitgeber time samples were acquired, to test atheromatous plaque formation, serum lipids levels and rhythmicity, clock genes, and lipid metabolism-related genes along with Sirtuin 1 (Sirt1) levels and rhythmicity.Results. Atherosclerosis plaques were formed in the aortic arch of ApoE-KO LD/DL mice. The serum lipids levels and oscillations in ApoE-KO LD/DL mice were altered, along with the levels and diurnal oscillations of circadian genes, lipid metabolism-associated genes, and Sirt1 compared with the control mice.Conclusions. Abnormal exposure to light aggravated plaque formation and exacerbated disorders of serum lipids and clock genes, lipid metabolism genes and Sirt1 levels, and circadian oscillation.

Suppression of Avian Hepatic Lipid Metabolism by Solvent Extracts of Garlic: Impact on Serum Lipids

1983 ◽  
Vol 113 (9) ◽  
pp. 1746-1755 ◽  
Author(s):  
Asaf A. Qureshi ◽  
Z. Z. Din ◽  
N. Abuirmeileh ◽  
W. C. Burger ◽  
Y. Ahmad ◽  
...  
Keyword(s):  
Lipid Metabolism ◽  
Serum Lipids ◽  
Hepatic Lipid Metabolism ◽  
Hepatic Lipid

Vocal cord paralysis as a presenting sign of autosomal recessive spinocerebellar atrophy type 10

2021 ◽  
Vol 14 (12) ◽  
pp. e245484
Author(s):  
David Vaughan ◽  
Adrinda Affendi ◽  
Patrick Sheahan ◽  
Brian Sweeney
Keyword(s):  
Vocal Cord ◽  
Autosomal Recessive ◽  
Vocal Cord Paralysis ◽  
Recessive Mutation ◽  
Speech Disturbance ◽  
Laryngeal Nerves ◽  
Recessive Type ◽  
Autosomal Recessive Mutation ◽  
Recurrent Laryngeal Nerves ◽  
Spinocerebellar Atrophy

Acquired vocal cord paralysis (VCP) is caused by dysfunction or injury of one or both recurrent laryngeal nerves. Here we report a 41-year-old man with spinocerebellar atrophy, autosomal recessive type 10 (SCAR10) due to an autosomal recessive mutation in the ANO10 gene, with VCP as the presenting symptom. He later developed ataxia and speech disturbance.

Pyloroduodenal Atresia (Diaphragm Type): An Autosomal Recessive Disease

PEDIATRICS ◽  
1978 ◽  
Vol 62 (3) ◽  
pp. 419-421
Author(s):  
Henry C. Mishalany ◽  
Ziad H. Idriss ◽  
Vazken M. Der Kaloustian
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Single Individual ◽  
Autosomal Recessive Mode ◽  
Genetic Etiology ◽  
New Evidence ◽  
Mode Of Inheritance

In 1970,1 1971,2 and 19743 we described two families, each with two siblings who had atresia of the first portion of the duodenum. The four patients were first cousins to each other. We suggested a genetic etiology with an autosomal recessive mode of inheritance, which has been accepted.4 The source of the proposed gene for both families was traced to a single individual. Recently, a third family, linked to the previous two with strong consanguineous ties, had a pair of twins affected with the same anomaly. The purpose of this article is to bring the weight of new evidence afforded by this third family to further substantiate the genetic etiology of this condition.

Rescue of developmental lens abnormalities in chimaeras of noncataractous and congenital cataractous mice

Development ◽  
1987 ◽  
Vol 99 (4) ◽  
pp. 473-480
Author(s):  
A.L. Muggleton-Harris ◽  
K. Hardy ◽  
N. Higbee
Keyword(s):  
Medical Research ◽  
Congenital Cataract ◽  
Biochemical Analysis ◽  
Growth Regulation ◽  
Cellular Level ◽  
Model System ◽  
Mouse Mutant ◽  
Phenotypic Characteristics ◽  
Cataractous Lens ◽  
Mouse Lens

In the study of the lens of a congenital cataractous mouse mutant (CAT), it has been shown that a loss of growth regulation at the cellular level causes gross lens abnormalities. The phenotypic characteristics of the cataractous mouse lens are similar to those seen in human congenital cataract and thus serves as a model system for medical research. In this present investigation, we have demonstrated that the abnormalities of the congenital cataractous lens can be rescued by forming chimaeras between DBA/2 (a noncataractous strain of mouse) and the CAT mutant. This report describes the histological, cellular and biochemical analysis of the resultant chimaeric eyes, and discusses possible mechanisms by which these results were achieved.

THE ICHTHYOSIFORM DERMATOSES

PEDIATRICS ◽  
1968 ◽  
Vol 42 (6) ◽  
pp. 990-1004
Author(s):  
Nancy B. Esterly
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Investigation ◽  
Correct Diagnosis ◽  
Associated Anomalies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Clinical Variants ◽  
Congenital Ichthyosiform Erythroderma ◽  
Mode Of Inheritance

The Term ichthyosis describes a group of heritable disorders which are characterized by cutaneous scaling. The visible scale differentiates these disorders from xeroderma in which the skin is dry but does not visibly desquamate. Many classifications of the ichthyoses have been proposed, but most are descriptive and contribute little to an understanding of etiology and pathogenesis. Often clinical variants or patients with minor associated anomalies have been categorized separately on an empirical basis and, in some cases, several names have been used for one entity to indicate severity of involvement. The most useful classification appears to be that of Wells and Kerr,1 who segregated the various types by their pattern of inheritance and retained the nomenclature in common usage. Differences in clinical features and histologic patterns also correlate with these genetically distinguishable types. Thus, with careful attention to the distribution and type of scale, family history, and skin histology, the physician will be able to classify patients in a meaningful way. Such an approach is helpful for several reasons. The prognosis, troublesome features, and degree of handicapping differ for the various ichthyoses. Sensible genetic counseling, an important part of the management of such patients, is possible only with the correct diagnosis. Moreover, clinical investigation of affected individuals will be further confused unless the entity under study is well defined. The need for an understanding of the physiologic and biochemical defects of ichthvotic skin is underscored by the limitations of currently available therapy. The four major types of ichthyosis include: (1) ichthyosis vulgaris, transmitted as an autosomal dominant trait; (2) sexlinked ichthyosis, transmitted as an Xlinked trait; (3) bullous congenital ichthyosiform erythroderma (CIE), inherited as an autosomal dominant trait; and (4) nonbulbus congenital ichthyosiform erythroderma, autosomal recessive mode of inheritance (Table I).

scholarly journals Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency

2019 ◽  
Vol 2019 ◽  
pp. 1-10 ◽  
Author(s):  
Nanis S. Marzuki ◽  
Firman P. Idris ◽  
Hannie D. Kartapradja ◽  
Alida R. Harahap ◽  
Jose R. L. Batubara
Keyword(s):  
Autosomal Recessive ◽  
Disorders Of Sex Development ◽  
External Genitalia ◽  
Compound Heterozygous ◽  
Phenotypic Characteristics ◽  
Sex Development ◽  
Srd5a2 Gene ◽  
Diagnostic Approaches ◽  
Autosomal Recessive Condition

The 5-alpha-reductase type 2 deficiency (5ARD2) is an autosomal recessive condition associated with impairment in the conversion of testosterone to dihydrotestosterone. This condition leads to undervirilisation in 46,XY individuals. To date, there have been more than 100 variations identified in the gene responsible for 5ARD2 development (steroid 5-alpha-reductase 2, SRD5A2). However, few studies have examined the molecular characterisation of Indonesian 5ARD2 cases. In the current study, we analysed 37 subjects diagnosed with 46,XY DSD (disorders of sex development) with confirmed variations in the SRD5A2 gene. We examined results from testosterone/dihydrotestosterone (T/DHT) and urinary etiocholanolone/androsterone (Et/An) ratios, as well as from molecular and clinical analyses. Twelve variants in the SRD5A2 gene were identified, and 6 of which were novel, namely, c.34–38delGinsCCAGC, p.Arg50His, p.Tyr136∗, p.Gly191Arg, p.Phe194Ile, and p.Ile253Val variants. Moreover, we determined that 20 individuals contained harmful mutations, while the remaining 17 variants were benign. Those containing harmful mutations exhibited more severe phenotypes with median external genitalia masculinisation scores (EMS) of 3 (1.5–9) and were more likely to be diagnosed at a later age, reared as female, and virilised at pubertal age. In addition, the respective sensitivities for detecting severe 5ARD2 cases using T/DHT (cutoff: 10) and urinary Et/An ratios (cutoff: 0.95) were 85% and 90%, whereas mild cases were only identified with 64.7% and 47.1% sensitivity, respectively. Although we were unable to identify clear correlations between genotypic and phenotypic characteristics in this study, we clearly showed that individuals who were homozygous or compound heterozygous for any of the harmful mutations were more likely to exhibit classic 5ARD2 phenotypes, lower EMS, female assignment at birth, and virilisation during puberty. These results serve to inform the development of improved clinical and molecular 5ARD2 diagnostic approaches, specifically in Indonesian patients.

Effects of epinephrine and norepinephrine on lipid metabolism of the rat

1960 ◽  
Vol 199 (6) ◽  
pp. 995-999 ◽  
Author(s):  
Meyer Friedman ◽  
Sanford O. Byers
Keyword(s):  
Lipid Metabolism ◽  
Intestinal Absorption ◽  
Serum Lipid ◽  
Serum Lipids ◽  
Hepatic Metabolism ◽  
Permanent Effect ◽  
Slight Rise

Administration of either epinephrine or norepinephrine was found to have little or no effect upon the intestinal absorption of cholesterol, phospholipid or triglyceride. Similarly administration of either catecholamine did not appear to affect the hepatic metabolism of cholesterol as judged by cholesterol and cholate analyses of bile. Starved animals infused with either catecholamine failed to exhibit any serum change in cholesterol or phospholipid. However, a modest rise in triglyceride was observed either 12 or 24 hours after infusion. If the animals were fed cholesterol and triglyceride, a slight rise in all serum lipids was observed at the end of 24 hours of infusion. Animals injected thrice weekly with either epinephrine or norepinephrine in oil for a period of 120 days exhibited approximately the same serum lipid values as the control animals. The conclusion is reached that little or no permanent effect on the lipid metabolism of the rat is achieved by administration of either catecholamine.

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