April 13, 2006Journal of Biological ChemistryOpen Access

Functional Consequences of a Mutation in an Expressed Human α-Cardiac Actin at a Site Implicated in Familial Hypertrophic Cardiomyopathy

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Population

In vitro model using expressed human alpha-cardiac actin purified from a baculovirus/insect cell expression…

Comparison

E99K mutant human alpha-cardiac actin vs Wild-type (WT) human alpha-cardiac actin

Design

Preclinical

Authors

CBCarol S. BookwalterUniversity of Vermont KTKathleen M. TrybusUniversity of Vermont

Discussion

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Implication

E99K may initiate HCM via actomyosin impairment; leaves open clinical relevance and therapeutic targeting pending human validation.

Structured PICO

Population

In vitro model using expressed human alpha-cardiac actin purified from a baculovirus/insect cell expression system

Intervention

E99K mutant human alpha-cardiac actin

Comparator

Wild-type (WT) human alpha-cardiac actin

Outcome

Actin-activated ATPase measurements (Km and Vmax), affinity for S1, in vitro motility, and thermal stabilitysurrogate

The E99K mutation in human alpha-cardiac actin weakens the actomyosin interaction, decreasing force and motion generating capacity, which likely provides the primary insult leading to familial hypertrophic cardiomyopathy.

Cite This Study

Bookwalter et al. (2006) studied this question.

synapsesocial.com/papers/6a7372e720644e164b4e5b80 https://doi.org/10.1074/jbc.m512935200

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Functional Consequences of a Mutation in an Expressed Human α-Cardiac Actin at a Site Implicated in Familial Hypertrophic Cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Functional Consequences of a Mutation in an Expressed Human α-Cardiac Actin at a Site Implicated in Familial Hypertrophic Cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider