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Genetic Analysis of Thyrotoxic Periodic Paralysis

2014-08-27 03:39:46 | BioPortfolio

Summary

Thyrotoxic periodic paralysis (TPP) is characterized by episodes of reversible hypokalemia and weakness in thyrotoxic patients. It is commonly found in males of Asian descent and is also seen in individuals having Native American or Hispanic ancestry. Therefore genetic etiology has been hypothesized. This study, we aim to find the susceptibility genes that associate with TPP. Both candidate genes approach and genome wide association study have been conducted.

Description

This study is a genetic association study. It included 50 cases of TPP patients and 80 cases of male, hyperthyroid patients who didn't have hypokalemia as a well characterized controls. After informed consent were obtained, genomic DNA from leukocyte were extracted. Pooled DNA were constructed and whole genome scan using 10K GeneChip microarray were genotyped on pooled genomic DNA.

Study Design

Observational Model: Case Control, Primary Purpose: Screening, Time Perspective: Cross-Sectional, Time Perspective: Retrospective

Conditions

Thyrotoxic Periodic Paralysis

Status

Completed

Source

Ramathibodi Hospital

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:39:46-0400

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PubMed Articles [629 Associated PubMed Articles listed on BioPortfolio]

Recognizing thyrotoxic hypokalemic periodic paralysis.

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Medical and Biotech [MESH] Definitions

An inorganic compound that is used as a source of iodine in thyrotoxic crisis and in the preparation of thyrotoxic patients for thyroidectomy. (From Dorland, 27th ed)

A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)

An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)

A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.

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