Related Experiment Video
Updated: Aug 7, 2025
11:46
Urinary Bladder Distention Evoked Visceromotor Responses as a Model for Bladder Pain in Mice
Published on: April 27, 2014
17.8K
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort
Elicia Estrella1,2,3, Shira Rockowitz3,4, Marielle Thorne2,3
1Department of Neurology Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
Advanced Genetics (Hoboken, N.J.)
|March 13, 2023
Summary
Genetic analysis of interstitial cystitis/bladder pain syndrome (IC/BPS) suggests some patients may have undiagnosed genetic disorders. Genes like ATP2C1, ATP2A2, and SIX5 may be linked to IC/BPS, warranting further investigation.
Area of Science:
- Genetics
- Urology
- Medical Syndromes
Background:
- Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic condition characterized by urinary frequency, urgency, and bladder pain.
- The etiology of IC/BPS remains largely unknown, despite its significant impact on a large patient population.
Purpose of the Study:
- To investigate the genetic underpinnings of IC/BPS by performing whole exome sequencing.
- To identify potential genetic variants and Mendelian syndromes associated with IC/BPS.
- To explore candidate genes that may contribute to the development of IC/BPS.
Main Methods:
- Whole exome sequencing was conducted on 109 individuals diagnosed with IC/BPS.
- Genetic variants in known disease genes (SIX5, ATP2A2, ATP2C1) were identified.
- Sequence Kernel Association Test (SKAT) was used to analyze the burden of rare variants in ATP2C1.
Main Results:
- A previously reported SIX5 variant associated with Branchiootorenal syndrome 2 (BOR2) was found in one family.
- Likely pathogenic variants in ATP2A2 (Darier-White disease) and ATP2C1 (Hailey-Hailey Disease) were identified in IC/BPS patients.
- A statistically significant increased burden of rare ATP2C1 variants was observed in IC/BPS cases compared to controls (p=0.03).
Conclusions:
- Some individuals with IC/BPS may have undiagnosed Mendelian genetic syndromes.
- ATP2C1, ATP2A2, and SIX5 are proposed as candidate genes for IC/BPS.
- Genetic screening could aid in diagnosing and managing the heterogeneous nature of IC/BPS.
Related Concept Videos
01:20Disorders of the Urinary System
419
The urinary system is responsible for eliminating waste and excess fluids from the body. However, disorders of the urinary system can arise due to various reasons like infections, stress, age, congenital abnormalities, and lifestyle.
Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...
Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...
419
01:17Chronic Bowel Disorders: Introduction
512
Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
512
01:26Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations
23
Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
23
01:30Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
213
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
213
01:17Irritable Bowel Syndrome I: Introduction
341
Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
341
01:43Sex-linked Disorders
102.5K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.5K