Complex Genetic Diseases

2016 ◽  
Author(s):  
Michael Snyder
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Disease ◽  
Single Gene ◽  
Genetic Diseases ◽  
Gene Variants ◽  
Tay Sachs Disease ◽  
Causative Effect ◽  
Complex Genetic Diseases

What is a complex genetic disease? Although great strides have been made to identify single gene variants that have a strong causative effect for a particular disease (e.g., CFTR mutations for cystic fibrosis and HEXA mutations for Tay-Sachs disease), the...

3. Mutations and gene variants

2014 ◽  
Author(s):  
Jonathan Slack
Keyword(s):  
Cystic Fibrosis ◽  
Single Cell ◽  
Genetic Diseases ◽  
The Body ◽  
Gene Variants ◽  
Single Mutation ◽  
Gene Variant ◽  
Do So ◽  
New Mutations

All gene variants originate as mutations. Most variants in the genome of any given individual are not new mutations but have been inherited from previous generations. ‘Mutations and gene variants’ shows that mutations can occur in any cell of the body, but in order to be inherited they must occur in the DNA of the reproductive cells. There are numerous genetic diseases caused by a single mutation in one gene, and the examples considered here are cystic fibrosis, haemophilia, achondroplasia, and Holt-Oram Syndrome. In such cases, the inheritance of the abnormal gene variant follows simple Mendelian rules. The origin of cancer is explained as a combination of mutations occurring in a single cell of the body. Inherited gene variants predisposing to cancer do so because they reduce the number of new mutations required.

Epigenetics in Cystic Fibrosis: Epigenetic Targeting of a Genetic Disease

2015 ◽  
Vol 16 (9) ◽  
pp. 976-987 ◽  
Author(s):  
Nualpun Sirinupong ◽  
Zhe Yang
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Disease

scholarly journals CFTR Cooperative Cis-Regulatory Elements in Intestinal Cells

2021 ◽  
Vol 22 (5) ◽  
pp. 2599
Author(s):  
Mégane Collobert ◽  
Ozvan Bocher ◽  
Anaïs Le Nabec ◽  
Emmanuelle Génin ◽  
Claude Férec ◽  
...  
Keyword(s):  
Gene Expression ◽  
Cystic Fibrosis ◽  
Gene Regulation ◽  
Genetic Diseases ◽  
Regulatory Elements ◽  
Cftr Gene ◽  
Intestinal Cells ◽  
Cooperative Effects ◽  
Cis Acting ◽  
Study Techniques

About 8% of the human genome is covered with candidate cis-regulatory elements (cCREs). Disruptions of CREs, described as “cis-ruptions” have been identified as being involved in various genetic diseases. Thanks to the development of chromatin conformation study techniques, several long-range cystic fibrosis transmembrane conductance regulator (CFTR) regulatory elements were identified, but the regulatory mechanisms of the CFTR gene have yet to be fully elucidated. The aim of this work is to improve our knowledge of the CFTR gene regulation, and to identity factors that could impact the CFTR gene expression, and potentially account for the variability of the clinical presentation of cystic fibrosis as well as CFTR-related disorders. Here, we apply the robust GWAS3D score to determine which of the CFTR introns could be involved in gene regulation. This approach highlights four particular CFTR introns of interest. Using reporter gene constructs in intestinal cells, we show that two new introns display strong cooperative effects in intestinal cells. Chromatin immunoprecipitation analyses further demonstrate fixation of transcription factors network. These results provide new insights into our understanding of the CFTR gene regulation and allow us to suggest a 3D CFTR locus structure in intestinal cells. A better understand of regulation mechanisms of the CFTR gene could elucidate cases of patients where the phenotype is not yet explained by the genotype. This would thus help in better diagnosis and therefore better management. These cis-acting regions may be a therapeutic challenge that could lead to the development of specific molecules capable of modulating gene expression in the future.

CYSTIC FIBROSIS OF THE PANCREAS

PEDIATRICS ◽  
1957 ◽  
Vol 19 (6) ◽  
pp. 1136-1138
Author(s):  
Paul A. di Sant'Agnese ◽  
Charles Upton Lowe
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Evidence ◽  
Clinical Effect ◽  
Single Gene ◽  
Pancreatic Insufficiency ◽  
Recessive Gene ◽  
The United States ◽  
Live Births ◽  
Almost All ◽  
Very High

IN THE COURSE of a review of all features of the disease, the following points were particularly noteworthy: Incidence This disease accounts for almost all cases of pancreatic insufficiency in children. The incidence in the population of the United States is between 1 in 600 and 1 in 10,000 live births, with a probable average incidence of 1 in 2,500. There is no sex predominance. There is, however, a difference in racial predilection, being rarely seen in the Negro and never in Mongolians. It is a familial disease, displaying the characteristics of a mendelian recessive gene. This means that in an affected family the disease may occur in approximately 25% of the offspring, that both parents must be carriers of the trait and that two-thirds of the non-affected children are also carriers. Birth order has no effect on the inheritance of this disease. The fact that it is usually a lethal disease indicates that the mutation rate for this gene must be very high; the frequency of the single gene in the population has been calculated to be approximately 1 in 50. Pancreatic Insufficiency Clinical evidence of poor digestion and absorption of protein and fat is seen in the increased quantities of these substances in the feces, which causes the feces to be bulky, foul smelling, foamy and greasy. Another clinical effect of malabsorption is seen in the failure of the newborn infant with cystic fibrosis of the pancreas to regain birth weight in the first 10 days of life. In the absence of other evidence of disease, this is a sign suggestive of pancreatic failure.

Article on Tay-Sachs Disease

2021 ◽  
pp. 475-478
Author(s):  
Bhawana. B. Bhende
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Defect ◽  
Premature Death ◽  
Nerve Cells ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Physical Abilities ◽  
The Brain

Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord..also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay- Sachs disease is a rare disease. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common. TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.

Optimal Genetic Screening for Cystic Fibrosis

2021 ◽  
Author(s):  
Hussein El Hajj ◽  
Douglas R. Bish ◽  
Ebru K. Bish
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Variants ◽  
Genetic Screening ◽  
Genetic Diseases ◽  
The United States ◽  
Published Data ◽  
Decision Support Model ◽  
Screening Process ◽  
Public Health Initiative ◽  
Cystic Fibrosis Screening

Improving Newborn Screening for Genetic Diseases Screening newborns for life-threatening genetic diseases is an important public health initiative. Cystic fibrosis is one of the most prevalent diseases in this context. As part of the cystic fibrosis screening process, all states in the United States use multiple tests, including genetic tests that detect a subset of the more than 300 genetic variants (specific mutations) that cause cystic fibrosis. In “Optimal Genetic Screening for Cystic Fibrosis,” El-Hajj, D.R. Bish, and E.K. Bish develop a decision support model to select which genetic variants to screen for, considering the trade-off between classification accuracy and testing cost, and the technological constraints that limit the number of variants selected. Because variant prevalence rates are highly uncertain, a robust optimization framework is developed. Further, two commonly used cystic fibrosis screening processes are analytically compared, and conditions under which each process dominates are established. A case study based on published data are provided.

Urinary Retention Due to Severe Pseudocystic Mucoid Degeneration of the Prostatic Matrix: A Rare Urologic Manifestation of Cystic Fibrosis

2015 ◽  
Vol 95 (4) ◽  
pp. 486-488
Author(s):  
Gesa Kellermann ◽  
Aristotelis G. Anastasiadis ◽  
Desirée L. Dräger ◽  
Friedrich Prall ◽  
Oliver W. Hakenberg
Keyword(s):  
Cystic Fibrosis ◽  
Urinary Retention ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Structural Changes ◽  
Histopathological Examination ◽  
Underlying Disease ◽  
Exocrine Glands ◽  
Mucoid Degeneration ◽  
Prostatic Enlargement

Cystic fibrosis (CF) is an autosomal recessive genetic disease, which is characterized by the production of thick mucus in exocrine glands. The main cause for morbidity and mortality in CF patients is respiratory failure. The gastrointestinal system is also commonly affected. Urologic manifestations of CF include infertility and azoospermia, nephrolithiasis, and stress urinary incontinence. In this report, we describe a 33-year-old male, who presented with recurrent urinary retention due to prostatic enlargement despite his young age. After transurethral resection, the voiding problems resolved. Histopathological examination, however, revealed a severe pseudocystic mucoid degeneration of the prostatic matrix as a cause of his subvesical obstruction. Although these structural changes are most probably due to his underlying disease, detailed histologic features have not been described in the literature.

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