Genetics and Epigenetics of Genitourinary Diseases

1st Edition - August 27, 2024
Editor: Seyed Mohammad Kazem Aghamir
Language: English
Paperback ISBN:
9 7 8 - 0 - 4 4 3 - 2 7 3 0 2 - 5
eBook ISBN:
9 7 8 - 0 - 4 4 3 - 2 7 3 0 3 - 2

Genetics and Epigenetics of Genitourinary Diseases aims to provide a comprehensive collection of data on genetics and epigenetics in almost all genitourinary diseases for researche… Read more

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Genetics and Epigenetics of Genitourinary Diseases aims to provide a comprehensive collection of data on genetics and epigenetics in almost all genitourinary diseases for researchers, clinicians, and graduate students.

This book discusses several genetic and epigenetic changes like DNA methylation, mutations, single nucleotide polymorphisms, DNA rearrangements, chromosomal remodeling, microsatellite instability, and chromosomal instability (CIN) in genitourinary cancers.

This book is split into 18 chapters, beginning with the importance of genetics and epigenetics in genitourinary diseases. It then goes on to cover the genetics and epigenetics of various diseases and tumors. Certain chapters present novel techniques of next-generation sequencing (NGS). Furthermore, RNA-Seq is discussed as a sequencing technique that uses NGS to reveal the presence and quantity of RNA in a biological sample.

This book is a valuable resource for researchers, practitioners, and students in genetics and epigenetics who want to broaden their understanding of the field.

Cover image
Title page
Table of Contents
Copyright
List of contributors
Chapter 1. Introduction (importance of genetic and epigenetics in genitourinary diseases)
Abstract
Introduction
References
Chapter 2. Epidemiological point of view
Abstract
Introduction
Kidney disease
Alport syndrome
Wegener granulomatosis
Renal coloboma syndrome
Fraser syndrome
Inherited renal tubulopathies
Fanconi syndrome
Lowe syndrome
Wilson disease
Liddle syndrome
Gitelman syndrome
Male urogenital disease
Cryptorchidism
Benign prostatic hyperplasia
Adrenal disease
Cushing’s syndrome
Primary hyperaldosteronism
Li–Fraumeni syndrome
Beckwith–Wiedemann syndrome
Pheochromocytoma
Congenital adrenal hyperplasia
Kidney stone
Female urology
Pelvic floor disorders
Urinary incontinence
Overactive bladder
Urinary tract infections
Female sexual dysfunction
Male infertility
Urologic tumor
Kidney tumor
Prostate tumor
Bladder tumor
Penis tumor
Adrenal gland tumor
Conclusion
References
Chapter 3. Molecular biology and genetic change definition
Abstract
Introduction
Chromosome
Genes
Different types of inheritance
Mutation
Types of mutations
Somatic mutation
Germline mutations
Missense mutation
Nonsense mutation
Insertion mutation
Deletion mutation
Frameshift mutation
Repeat expansion mutation
Insertion–deletion mutations (indels)
Structural effects of mutations on proteins
Synonymous or silent mutations
Nonsynonymous mutations
Mutations in noncoding DNA
Splicing mutations
Functional effects of mutations on proteins
Loss-of-function
Haploinsufficiency
Gain-of-function mutations
Dominant-negative mutation
Genotype-phenotype correlation
Chromosomal abnormalities
Numerical anomalies
Structural abnormalities
Chromosomal deletion
Chromosomal duplication mutation
Translocation mutation
Types of translocation mutations
Types of inversions
Paracentric inversion
Pericentric inversion
Ring chromosome
Mosaicism
Chimerism
References
Chapter 4. Molecular biology and epigenetic modifications definition
Abstract
Introduction
Molecular basis of epigenetic changes
Mechanisms of epigenetics
RNA molecule methylation
Histone modifications
Noncoding RNAs
Abnormal epigenetic changes in cancer progression
Epigenetic therapy in cancer
Clinical application of lncRNA in urological cancer management
Bladder cancer
Bladder cancer epigenetics
Regulation of gene expression by miRNAs
Regulation of gene expression through histone modifications
Application of epigenetics in bladder cancer diagnosis
Epigenetics role in bladder cancer prognosis
Therapeutic goals with epigenetic assistance
DNA methyltransferase inhibitors
Histone deacetylase inhibitors
Prostate cancer
Epigenetics of prostate cancer
Gene methylation in prostate cancer
Epigenetic role of miRNAs in prostate cancer
Regulation of miRNA function through methylation
Regulation of epigenetic structures by miRNAs
Histone deacetylases in prostate cancer
MiRNAs and the androgen receptor pathway
Renal cell carcinoma
Epigenetics of renal cell carcinoma
PI3K/AKT/mTOR signaling pathway
VEGF signaling pathway
TGF-B/NF-kB signaling pathway
Immunity-related and metabolic pathway
miRNAs' role as oncogenic factors
PI3K/AKT signaling pathway
TGF-B/Wnt signaling pathway
NF-kB signaling pathway
RAS/MAPK signaling pathway
miRNAs application as diagnostic biomarkers in renal cell carcinoma
The role of lncRNAs in renal cell carcinoma
Application of lncRNAs as diagnostic biomarkers
Application of lncRNAs in predicting patient prognosis
Application of lncRNAs to achieve therapeutic goals
Testicular cancer
Epigenetics of testicular cancer
Epigenetics in treatment of testicular tumors
Conclusion
References
Chapter 5. Molecular biology, genetic, and epigenetics of kidney disease
Abstract
Introduction
Congenital anomalies of the kidney and urinary tract
Agenesis, dysplasia, and hypoplasia of kidney
Genetics of agenesis, dysplasia, and hypoplasia of kidney
Horseshoe kidney
Ectopic kidney
Medullary cystic kidney disease type 1
Dent disease
Nephronophthisis
Juvenile Nephronophthisis
Infantile Nephronophthisis
Senior-Loken syndrome
Meckel–Gruber syndrome
Nephropathic Cystinosis
Goodpasture syndrome
Saldino–Mainzer syndrome
Renal artery stenosis
Renal tubular acidosis
Genetics of distal renal tubular acidosis (RTA Type 1)
Autosomal dominant renal tubular acidosis without or with delayed hearing loss
Acid–base disorder and KCC4 mutation
Genetics of proximal renal tubular acidosis (RTA Type 2)
Genetics of autosomal dominant RTA Type 2 with visual impairments
Autosomal dominant renal tubular acidosis type 2
Renal tubular acidosis type 3
Dent disease
Renal tubular acidosis Type 4 with hyperkalemia
Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism Type 2
Bardet–Biedl syndrome
Tuberous Sclerosis
Renal inherited tubulopathies
Fanconi syndrome
Cerebroocular renal dystrophy (Lowe syndrome)
Bartter syndrome and Gitelman syndrome
Similar disorders
Bartter syndrome Type I or neonatal Bartter syndrome
Bartter syndrome Type II
Bartter syndrome Type III
Bartter syndrome Type IV
Medullary Sponge Kidney
Polycystic kidney disease
Genetics
Management and treatment
Symptoms and diagnosis
Management and treatment of Alport syndrome
Genetics
Wegener’s syndrome
Epidemiology
Risk factors
Symptoms
Diagnosis
Treatment
Genetics
Gitelman syndrome
Townes–Brocks syndrome
17q12 Deletion syndrome
Branchio-oto-renal syndrome
Familial Mediterranean fever
Diabetes mellitus (Type II)
Conclusion
References
Chapter 6. Molecular biology, genetic, and epigenetics of bladder disease
Abstract
Introduction
Nocturia
Overactive bladder
Conclusion
References
Chapter 7. Molecular biology, genetic, and epigenetics of prostate disease
Abstract
Introduction
Benign prosate hyperplasia
Gene changes related to the cell cycle and apoptosis
Gene deletion and duplication
Conclusion
References
Chapter 8. Molecular biology, genetic, and epigenetics of testis disease
Abstract
Introduction
Orchitis
Genetic control of EAO
Linkage mapping of EAO traits
Inguinal hernia
Genetics of inguinal hernia
Epididymitis
Spermatocele
Genetics of speramtocele
Hydrocele
Varicocele
Genetics and epigenetics
Testicular torsion
Familial patterns and inheritance
Genetic risk factors
Epigenetic mechanisms
References
Chapter 9. Molecular biology, genetic, and epigenetics of ureteral disease
Abstract
Introduction
Ureteral disease
Vesicoureteral reflux
Ureteral duplication
Ectopic ureter
Ureterocele
Other factors contributing to the ureteral system development
Conclusion
References
Chapter 10. Molecular biology, genetic, and epigenetic urolithiasis
Abstract
Introduction
Water deficiency
Gastrointestinal issues
Dietary factors
Genetics
Types of kidney and urinary stones
Primary hyperoxaluria
Cystinuria
Uric acid stones
Lesch–Nyhan syndrome
Guanine stones
Genetic association with guanine stones
2,8-dihydroxyadenine stones
The cause of the formation of 2,8-dihydroxyadenine stones
Epidemiology
Genetic association with 2,8-dihydroxyadenine stones
Magnesium ammonium phosphate stones (struvite)
Formation of struvite stones and calcium stones
Epidemiology
Calcium stones
Genetic reasons for the occurrence of calcium stones
Autosomal dominant hypocalcemia (ADH)
Conclusion
References
Chapter 11. Infertility and the chromosomal abnormalities
Abstract
Introduction
Male infertility
Diagnosis
Genetics
Chromosome number disorders
Numerical anomalies
Klinefelter syndrome (47, XXY)
Fertility of patients with Klinefelter
Jacobs syndrome (47, XYY)
Symptoms
Genetics
Fertility
Down syndrome
Genetics
Chromosome structural disorders
Chromosome skeletal disorders
Robertsonian translocation
Inversion
Y chromosome microdeletion
Complete globozoospermia
Hypospadias
Persistent Mullerian duct syndrome
Cryptorchidism
Known genetic causes of cryptorchidism
Decreased androgen levels
Disruption of androgen synthesis or action
Congenital hypogonadotropic hypogonadism
Varicocele
Epidemiology
Risk factors and factors related to the disease
Symptoms
Diagnostic methods
Treatment methods
Genetics
Bilateral congenital absence of the vas deferens
Mutation in the cystic fibrosis transmembrane conductance regulator gene
Genetics
Bardet–Biedl syndrome
Prader–Willi syndrome
Primary ciliary dyskinesia
Genetic
Male infertility with monogenic causes
Campomelic dysplasia
Pseudohermaphrodism
Male pseudohermaphrodism
Hermaphrodism 46, XX
True hermaphroditism
Androgen resistance
Neuroendocrine control of reproduction
21-Hydroxylase deficiency (congenital adrenal hyperplasia)
Conclusion
References
Chapter 12. Biology of cancer
Abstract
What is cancer?
General characteristics of cancers
Warburg effect
Loss of heterozygosity
Hereditary or acquired cancers
DNA damages and their repair
Repair of single-nucleotide damaged lesions
Single-strand breaks
Double strand breaks
Repair of double-strand breaks
The relation between DNA damage and cancer
Cellular senescence
Antiapoptotic factors
Apoptotic factors
TP53
Antiapoptotic factors
Mitotic death
Telomere length
Metastasis
Conclusion
References
Chapter 13. Molecular biology, genetic, and epigenetics of testis tumor
Abstract
Introduction
Testicular germ cell tumors
Epidemiology of different subtypes of testicular cancer
Predisposition of diseases and nongenetic factors
Genetic risk factors of testicular cancer
Single-nucleotide polymorphism
Copy number variations
Epigenetic risk factors of testicular cancer
Role of noncoding RNAs in testicular cancer
Role of transposable elements in testicular cancer
Significance of endogenous retroviral gene in testicular cancer
Conclusion
References
Chapter 14. Molecular biology, genetic, and epigenetics of kidney tumor
Abstract
Renal cancer
Renal cell carcinoma
Epidemiology
Clinical manifestations
Diagnosis
Treatment
Genetics
Birt–Hogg–Dubé syndrome
Fumarate hydratase
Succinate dehydrogenase
Tuberous sclerosis
Von Hippel–Lindau
Wilms tumor
Cowden syndrome
Conclusion
References
Chapter 15. Molecular biology, genetic, and epigenetics of prostate tumor
Abstract
Introduction
Prostate tumors
Genetics
Hereditary prostate cancer
Somatic genetic alterations
Tumor suppressor genes and heterozygote loss
Retinoblastoma
Structural rearrangement
Invasion suppressor genes and metastasis
Prostate cancer and androgens
Polymorphism
Epigenetics
Histone modification and androgen receptor activity
Suppression of apoptosis
Cellular pathways
Conclusions
References
Chapter 16. Molecular biology, genetic, and epigenetics of bladder tumor
Abstract
TERT
TSC1
HRAS
CDKN2A
STAG2
KDM6A
PIK3CA
P53/RB pathway signaling
TP53
RB1
Conclusion
References
Chapter 17. Molecular biology, genetic, and epigenetics of adrenal tumor
Abstract
Renal tumors
Causes of Addison’s disease
Clinical manifestations
Genetics
Cushing syndrome
Epidemiology
Risk factors
Clinical manifestations
Diagnosis
Low-dose dexamethasone suppression test
24-hour urine collection to measure cortisol levels
Nocturnal cortisol measurement
Nocturnal salivary cortisol level
Treatment modalities
Genetics
Genetic syndromes of the cortical part of the adrenal gland
Duplication and deletion of genes
Special genetic changes
Li–Framini syndrome
Diagnosis
Beckwith–Wiedmann syndrome
Diagnosis
Multiple endocrine neoplasia type 1
Congenital adrenal hyperplasia
Diagnosis
Conclusion
References
Chapter 18. Molecular biology, genetic, and epigenetics female urology
Abstract
Introduction
Lower urinary tract symptoms
Epidemiology
Risk factors
Pelvic floor disorder
Stress urinary incontinence
Overactive bladder and urinary incontinence
Detrusor underactivity
Genetics
Conclusion
References
Index

Life Sciences

Physical Sciences & Engineering

Social Sciences & Humanities

Health

Genetics and Epigenetics of Genitourinary Diseases

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Seyed Mohammad Kazem Aghamir