# GENETIC LINKAGE AND ION CHANNELS IN PERIODIC PARALYSES

> **NIH NIH K11** · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · 1994 · $92,820

## Abstract

Hyperkalemic familial periodic paralysis (FPP) is an autosomal dominant
muscle disease with onset in infancy or early childhood.  This disorder is
manifested by transient episodes of paralysis, frequently associated with
elevated serum potassium levels.  I have obtained a large pedigree
containing 40 living individuals affected by hyperkalemic FPP.  This family
will form the basis for identifying markers linked to this disease.  The
expected optimal LOD score in this kindred is 18.6.  The long term goal of
this work is to characterize the gene and its product.

Compelling electrophysiologic and biochemical evidence implicates altered
sodium regulation as the defect in this disease.  It is reasonable to
assume that a mutation in a skeletal muscle sodium channel (NaCh) or
Na+/K+-ATPase gene is responsible for the disease.  I have obtained a human
brain NaCh and several Na+/L+-ATPase genes and plan to use them as probes
in a linkage study of hyperkalemic FPP.  If the disease gene does not
co-segregate with one of the candidate genes, a general linkage approach
will be used to identify closely linked markers to the disease gene.
Additionally, I have obtained a human skeletal muscle cDNA library and will
screen it with a human brain NaCh and rat skeletal muscle NaCh genes to
isolate additional candidate genes.

The second phase of the project will depend on the method with which
linkage is established.  Co-segregation of a candidate gene with the
disease allele will lead to characterization of that gene.  If no
candidates co-segregate with the disease allele, information from the
general linkage will be used to construct a high resolution genetic and
physical map.  I've also established ties with collaborators who can
provide additional pedigrees with the same, and related muscle diseases for
further study.

This work will lead to prenatal and presymptomatic diagnosis capability.
This information may result in better understanding of this disorder,
normal muscle development and muscle regulation.

## Key facts

- **NIH application ID:** 2194408
- **Project number:** 5K11HD000940-04
- **Recipient organization:** UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH
- **SAM.gov UEI:** LL8GLEVH6MG3
- **Principal Investigator:** LOUIS J. PTACEK
- **Activity code:** K11 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $92,820
- **Award type:** 5
- **Project period:** 1991-07-01 → 1996-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2194408

## Citation

> US National Institutes of Health, RePORTER application 2194408, GENETIC LINKAGE AND ION CHANNELS IN PERIODIC PARALYSES (5K11HD000940-04). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2194408. Licensed CC0.

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