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A Mutation in the TRPC6 Cation Channel Causes Familial Focal

The existence of a mammalian family of TRPC ion channels, direct homologues of TRP, the visual transduction channel of flies, was discovered during 1995-1996 as a consequence of research into the mechanism by which the stimulation of the receptor-Gq-phospholipase Cbeta signaling pathway leads to sustained increases in intracellular calcium. Mammalian TRPs, TRPCs, turned out to be nonselective, calcium-permeable cation channels, which cause both a collapse of the cell's membrane potential and entry of calcium. The family comprises 7 members and is widely expressed. Many cells and tissues express between 3 and 4 of the 7 TRPCs. Despite their recent discovery, a wealth of information has accumulated, showing that TRPCs have widespread roles in almost all cells studied, including cells from excitable and nonexcitable tissues, such as the nervous and cardiovascular systems, the kidney and the liver, and cells from endothelia, epithelia, and the bone marrow compartment. Disruption of TRPC function is at the root of some familial diseases. More often, TRPCs are contributing risk factors in complex diseases. The present article reviews what has been uncovered about physiological roles of mammalian TRPC channels since the time of their discovery. This analysis reveals TRPCs as major and unsuspected gates of Ca(2+) entry that contribute, depending on context, to activation of transcription factors, apoptosis, vascular contractility, platelet activation, and cardiac hypertrophy, as well as to normal and abnormal cell proliferation. TRPCs emerge as targets for a thus far nonexistent field of pharmacological intervention that may ameliorate complex diseases.

Physiology and pathophysiology of canonical transient receptor potential channels

Infantile hypertrophic pyloric stenosis is a common condition affecting young infants; despite its frequency, it has been recognized only for a little over a century, and its etiology remains unknown. Nevertheless, understanding of the condition and of effective treatment have undergone a remarkable evolution in the 20th century, reducing the mortality rate from over 50% to nearly 0%. The lesion is characterized by gastric outlet obstruction and multiple anatomic abnormalities of the pyloric antrum. The antropyloric muscle is abnormally thickened and innervated, and the intervening lumen is obstructed by crowded and redundant mucosa. Recognition of the obstructive role of the mucosa led to discovery of effective surgical treatment. Accurate clinical diagnosis in patients in whom a thickened antropyloric muscle is not readily palpable can be difficult, resulting in delayed diagnosis and can lead to emaciation and electrolyte imbalance, making the patient a suboptimal surgical candidate. Current imaging techniques, particularly sonography, are noninvasive and accurate for identification of infantile hypertrophic pyloric stenosis. Successful imaging requires understanding of anatomic changes that occur in patients with this condition and plays an integral role in patient care. Accurate, rapid, noninvasive imaging techniques facilitate rapid referral of vomiting infants and prompt surgical treatment of more suitable surgical candidates.

Infantile Hypertrophic Pyloric Stenosis

https://www.advancesinpediatrics.com/article/S0065-3101(11)00006-5/pdf

Infantile hypertrophic pyloric stenosis: epidemiology, genetics, and clinical update.

Infantile hypertrophic pyloric stenosis (IHPS) is the most common surgical cause of vomiting in infants. Despite numerous hypotheses, the aetiopathogenesis of IHPS is not fully understood. Genetic, extrinsic and hormonal factors have been implicated in the pathogenesis of the disease. Furthermore, abnormalities of various components of the pyloric muscle such as smooth muscle cells, growth factors, extracellular matrix elements, nerve and ganglion cells, synapses, nerve supporting cells, neurotransmitters and interstitial cells of Cajal have been reported. Recently, genetic studies have identified susceptibility loci for IHPS and molecular studies have concluded that smooth muscle cells are not properly innervated in IHPS.

New insights into the pathogenesis of infantile pyloric stenosis.

Infantile hypertrophic pyloric stenosis (IHPS) has an incidence of 1–8 per 1000 live births and is inherited as a complex sex-modified multifactorial trait with a striking male preponderance. Syndromic and monogenic forms exist, and two loci have been identified. Infants present with vomiting due to gastric-outlet obstruction caused by hypertrophy of the smooth muscle of the pylorus. A genome-wide SNP-based high-density linkage scan was carried out on 81 IHPS pedigrees. Nonparametric and parametric linkage analysis identified loci on chromosomes 11q14-q22 (Zmax = 3.9, p < 0.0001; HLODmax = 3.4, α = 0.34) and Xq23 (Zmax = 4.3, p < 0.00001; HLODmax = 4.8, α = 0.56). The two linked chromosomal regions each harbor functional candidate genes that are members of the canonical transient receptor potential (TRPC) family of ion channels and have a potential role in smooth-muscle control and hypertrophy.

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

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Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.