AVP Gene

2020 ◽  
Author(s):  
Keyword(s):  
Avp Gene

Primary polydipsia in a family with a known mutation in the AVP gene

2014 ◽  
Author(s):  
Ruth Casey ◽  
Anne Marie Hannon ◽  
Caroline Joyce ◽  
Susan O'Connell ◽  
Domhnall O'Halloran
Keyword(s):  
Primary Polydipsia ◽  
Avp Gene

scholarly journals Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred

Endocrine ◽  
2021 ◽  
Author(s):  
Carlotta Marzocchi ◽  
Silvia Cantara ◽  
Alfonso Sagnella ◽  
Maria Grazia Castagna ◽  
Marco Capezzone
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Three Dimensional ◽  
Rare Condition ◽  
Central Diabetes Insipidus ◽  
Disulfide Bridges ◽  
Italian Family ◽  
Avp Gene

Abstract Purpose Familial neurohypophysial diabetes insipidus (FNDI), commonly caused by autosomal dominant arginine vasopressin (AVP) mutations, is a rare condition in which vasopressin fails in regulating body’s level of water with final polyuria and polydipsia. Genetic testing in familial cases of FNDI should be carry out to ensure adequate treatments and avoid disease manifestations especially in infants. Methods In this study, we investigated three-generations of a large Italian family with clinical diagnosis of familial central diabetes insipidus for the presence of potential pathogenic mutations in the AVP gene. Results We identified a heterozygous missense mutation (c.154 T > A; p.C52S) in AVP gene in all affected members studied of a large Italian family. In silico tools were used to investigate the pathogenic role of the mutation and three-dimensional protein structure predicted that the p.C52S impairs disulfide bridges formation resulting in misfolding of the protein. Conclusions This is the first study that identified a novel missense p.C52S mutation as causative of central diabetes insipidus in a large Italian pedigree.

scholarly journals Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family

2008 ◽  
Vol 52 (8) ◽  
pp. 1272-1276 ◽  
Author(s):  
Maria Edna de Melo ◽  
Suemi Marui ◽  
Vinícius Nahime de Brito ◽  
Marcio Corrêa Mancini ◽  
Berenice B. Mendonca ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Direct Sequencing ◽  
Sequencing Analysis ◽  
The Novel ◽  
Autosomal Dominant Disorder ◽  
Vasopressin Gene ◽  
Avp Gene

Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare autosomal dominant disorder characterized by polyuria and polydipsia due to deficiency of arginine vasopressin (AVP). More than 50 mutations causing adFNDI have been already reported in the AVP gene. The aim of the present study is to analyze the AVP gene in four generations of one Brazilian kindred with adFNDI. The proband was a 31-year old female with huge hypotonic polyuria (10 L/day) dated from childhood. Molecular analysis included amplification of all exons and exon-intron regions of the AVP gene by PCR and direct sequencing. Sequencing analysis showed a novel point mutation in heterozygous: G88V (GGC>GTC). All affected patients presented the same mutation also in heterozygous, while it was absent in four normal members. We expand the repertoire of mutations in AVP describing the novel G88V mutation in one Brazilian kindred with adFNDI.

Effects of acute salt loading on vasopressin mRNA level in the rat brain

1994 ◽  
Vol 266 (5) ◽  
pp. R1591-R1595 ◽  
Author(s):  
M. Shoji ◽  
T. Kimura ◽  
Y. Kawarabayasi ◽  
K. Ota ◽  
M. Inoue ◽  
...  
Keyword(s):  
Brain Tissue ◽  
Mrna Level ◽  
Mutual Relationship ◽  
Salt Loading ◽  
Complementary Dna ◽  
Osmotic Stimulation ◽  
Osmotic Challenge ◽  
Size Heterogeneity ◽  
The Brain ◽  
Avp Gene

To assess the mutual relationship between acute osmotic stimulation and arginine vasopressin (AVP) gene expression, 2 ml/100 g body weight of 0.9 M NaCl was intraperitoneally administered into conscious rats. They were decapitated to collect blood and brain samples before and 15 min and 1, 3, 6, and 9 h after the injection. The total RNA from the hypothalamus or whole brain tissue was used to determine AVP mRNA by Northern blot analyses with a complementary DNA probe. Plasma AVP and osmolality increased rapidly and transiently 15 min and 1 and 3 h after the injection. AVP mRNA was detected in the hypothalamus but not in the brain tissue without hypothalamus under basal and stimulated conditions. Brain AVP mRNA increased 2.2-fold at 3 h and 1.7-fold at 6 h (P < 0.05-0.01). These increases appeared to be due to the appearance of AVP mRNA with the shorter migration in the gel. These results suggest that an acute osmotic challenge increases AVP mRNA with size heterogeneity within the hypothalamo-hypophyseal tract.

A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing

2018 ◽  
Vol 107 (2) ◽  
pp. 167-180
Author(s):  
Helene Kvistgaard ◽  
Jane H. Christensen ◽  
Jan-Ove Johansson ◽  
Niels Gregersen ◽  
Charlotte Siggaard Rittig ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Laser Scanning ◽  
Dna Analysis ◽  
Autosomal Dominant ◽  
Challenge Test ◽  
Family Members ◽  
Laser Scanning Microscopy ◽  
Confocal Laser ◽  
Synonymous Variant ◽  
Avp Gene

Objective: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is characterized by severe polyuria and polydipsia and is caused by variations in the gene encoding the AVP prohormone. This study aimed to ascertain a correct diagnosis, to identify the underlying genetic cause of adFNDI in a Swedish family, and to test the hypothesis that the identified synonymous exonic variant in the AVP gene (c.324G>A) causes missplicing and endoplasmic reticulum (ER) retention of the prohormone. Design/Patients: Three affected family members were admitted for fluid deprivation test and dDAVP (1-deamino-8-d-arginine-vasopressin) challenge test. Direct sequencing of the AVP gene was performed in the affected subjects, and genotyping of the identified variant was performed in family members. The variant was examined by expression of AVP minigenes containing the entire coding regions as well as intron 2 of AVP. Methods/Results: Clinical tests revealed significant phenotypical variation with both complete and partial adFNDI phenotype. DNA analysis revealed a synonymous c.324G>A substitution in one allele of the AVP gene in affected family members only. Cellular studies revealed both normally spliced and misspliced pre-mRNA in cells transfected with the AVP c.324G>A minigene. Confocal laser scanning microscopy showed collective localization of the variant prohormone to ER and vesicular structures at the tip of cellular processes. Conclusion: We identified a synonymous variant affecting the second nucleotide of exon 3 in the AVP gene (c.324G>A) in a family in which adFNDI segregates. Notably, we showed that this variant causes partial missplicing of pre-mRNA, resulting in accumulation of the variant prohormone in ER. Our study suggests that even a small amount of aberrant mRNA might be sufficient to disturb cellular function, resulting in adFNDI.

scholarly journals Regulation of Vasopressin Synthesis and Release by Area Postrema in Rats*

Endocrinology ◽  
1998 ◽  
Vol 139 (4) ◽  
pp. 1481-1486 ◽  
Author(s):  
Hiroshi Arima ◽  
Kunikazu Kondo ◽  
Takashi Murase ◽  
Hisashi Yokoi ◽  
Yasumasa Iwasaki ◽  
...  
Keyword(s):  
Messenger Rna ◽  
Sham Group ◽  
Area Postrema ◽  
Dorsal Surface ◽  
Vasopressin Synthesis ◽  
Supraoptic Nuclei ◽  
Avp Gene ◽  
Rna Levels

Abstract There is evidence indicating that the area postrema (AP), the most caudal circumventricular organ located on the dorsal surface of the medulla, is involved in several physiological regulations. In this study, we investigated the role of AP in the regulation of arginine vasopressin (AVP) synthesis and release, using rats of which the AP was lesioned 6 weeks previously. The level of plasma AVP in the AP lesioned (APX) group was significantly lower than in the sham operated (Sham) group in the basal state. AVP release induced by either hyperosmolality or hypovolemia was significantly attenuated by APX. To clarify the role of AP in AVP synthesis in the hypothalamus, we examined the AVP gene expression using in situ hybridization. AVP messenger RNA levels in paraventricular (PVN) and supraoptic nuclei (SON) in the APX group were significantly lower than in the Sham group in the basal state. Moreover, the AVP messenger RNA levels in PVN and SON in the APX group were also significantly lower than in the Sham group after water deprivation for 3 days. These results suggest that AVP synthesis and release are tonically stimulated by AP in the basal state and that AVP synthesis and release in stimulated states are also regulated, at least partially, by AP.

Analysis of the vasopressin system and water regulation in genetically polydipsic mice

2000 ◽  
Vol 278 (2) ◽  
pp. E189-E194 ◽  
Author(s):  
Yuko Yambe ◽  
Yasuko Watanabe-Tomita ◽  
Satoshi Kakiya ◽  
Hisashi Yokoi ◽  
Hiroshi Nagasaki ◽  
...  
Keyword(s):  
Gene Expression ◽  
In Situ Hybridization ◽  
Arginine Vasopressin ◽  
Water Retention ◽  
Direct Sequencing ◽  
Plasma Sodium ◽  
Water Regulation ◽  
Excessive Water ◽  
Avp Gene

Polydipsic mice, STR/N, which show extreme polydipsia and polyuria, were discovered in 1958. In the STR/N, urine outputs are much higher than in control mice. The possibility of an abnormal regulation of the arginine vasopressin (AVP) system, or an abnormality in the renal susceptibility to AVP, should be considered. In this study we investigated the AVP system and water regulation in STR/N. We sequenced the AVP and the AVP V2-receptor genes of the STR/N by direct sequencing. No mutation was found in either of them. AVP gene expression examined by in situ hybridization and plasma sodium in 8-wk-old STR/N was significantly lower than in control mice, whereas it was significantly higher at 20 wk. Renal sensitivity to injected AVP was attenuated in 20-wk-old STR/N. The suppression of AVP synthesis due to excessive water retention in 8-wk-old STR/N suggests that polydipsia may be the primary cause in this strain. The 20-wk-old STR/N became dehydrated with the acceleration of AVP synthesis, which might have resulted from secondary desensitization to AVP.

Central Diabetes Insipidus Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of Literature

2020 ◽  
Vol 52 (11) ◽  
pp. 796-802
Author(s):  
Lara L.I. Feldkamp ◽  
Elke Kaminsky ◽  
Tina Kienitz ◽  
Marcus Quinkler
Keyword(s):  
Diabetes Insipidus ◽  
Gene Mutation ◽  
Arginine Vasopressin ◽  
Novel Mutation ◽  
Gene Mutations ◽  
Coding Region ◽  
Exon 2 ◽  
German Family ◽  
Gene Coding ◽  
Avp Gene

AbstractFamilial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant hereditary disorder characterized by severe polydipsia and polyuria that usually presents in early childhood. In this study, we describe a new arginine vasopressin (AVP) gene mutation in an ethnic German family with FNDI and provide an overview of disease-associated AVP-gene mutations that are already described in literature. Three members of a German family with neurohypophyseal diabetes insipidus were studied. Isolated DNA from peripheral blood samples was used for mutation analysis by sequencing the whole coding region of AVP-NPII gene. Furthermore, we searched the electronic databases MEDLINE (Pubmed) as well as HGMD, LOVD-ClinVar, db-SNP and genomAD in order to compare our cases to that of other patients with FNDI. Genetic analysis of the patients revealed a novel heterozygote missense mutation in exon 2 of the AVP gene (c.274T>G), which has not yet been described in literature. We identified reports of more than 90 disease-associated mutations in the AVP gene in literature. The novel mutation of the AVP gene seems to cause FNDI in the presented German family. Similar to our newly detected mutation, most mutations causing FNDI are found in exon 2 of the AVP gene coding for neurophysin II. Clinically, it is important to think of FNDI in young children presenting with polydipsia and polyuria.

scholarly journals Differential Cellular Handling of Defective Arginine Vasopressin (AVP) Prohormones in Cells Expressing Mutations of the AVP Gene Associated with Autosomal Dominant and Recessive Familial Neurohypophyseal Diabetes Insipidus

2004 ◽  
Vol 89 (9) ◽  
pp. 4521-4531 ◽  
Author(s):  
Jane H. Christensen ◽  
Charlotte Siggaard ◽  
Thomas J. Corydon ◽  
Gary L. Robertson ◽  
Niels Gregersen ◽  
...  
Keyword(s):  
Endoplasmic Reticulum ◽  
Amino Acid ◽  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Laser Scanning Microscopy ◽  
Recessive Mutation ◽  
Dominant Inheritance ◽  
Avp Gene

An unusual mutation in the arginine vasopressin (AVP) gene, predicting a P26L amino acid substitution of the AVP prohormone, is associated with autosomal recessive familial neurohypophyseal diabetes insipidus (FNDI). To investigate whether the cellular handling of the P26L prohormone differed from that of the Y21H prohormone associated with autosomal dominant inheritance of FNDI, the mutations were examined by heterologous expression in cell lines. Immunoprecipitation demonstrated retarded processing and secretion of the Y21H prohormone, whereas the secretion of the P26L prohormone seemed to be unaffected. Confocal laser scanning microscopy showed accumulation of the Y21H prohormone in the endoplasmic reticulum, whereas the P26L prohormone and/or processed products were localized in secretory granules in the cellular processes. RIA analysis showed reduced amounts of immunoreactive Y21H-AVP and P26L-AVP in the cell culture medium. Thus, the recessive mutation does not seem to affect the intracellular trafficking but rather the final processing of the prohormone. Our results provide an important negative control in support of the hypothesis that autosomal dominant inheritance of FNDI is caused by mutations in the AVP gene that alter amino acid residues important for folding and/or dimerization of the neurophysin II moiety of the AVP prohormone and subsequent transport from the endoplasmic reticulum.

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