What does this research mean for the field?

Three recently identified recessive mutations in the TNNT1 gene (Ser108 truncation, Leu203 truncation, and exon 8 deletion) cause nemaline myopathy by structurally impairing the binding affinity of slow skeletal muscle troponin T to tropomyosin. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.SUPPORTS_CONSENSUS.

July 18, 2016Biochemistry

Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies

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Population

Engineered slow skeletal muscle troponin T mutants (Ser truncation, Leu truncation, exon 8-deleted)

Comparison

Characterization of tropomyosin binding affinity… vs ANM Glu(180) truncation ssTnT and wild-type ssTnT

Design

Preclinical

Authors

CAChinthaka AmarasingheUva Wellassa University MHM. Moazzem HossainWayne State University JJJian‐Ping JinHeart Failure & Transplant

Discussion

Member takes

Implication

Animal data link ssTnT mutants to myopathy mechanisms; leaves open human cardiac translation and prospective validation.

Structured PICO

Population

Engineered slow skeletal muscle troponin T (ssTnT) mutants (Ser(108) truncation, Leu(203) truncation, exon 8-deleted)

Intervention

Characterization of tropomyosin (Tm) binding affinity and structural effects

Comparator

ANM Glu(180) truncation ssTnT and wild-type ssTnT

Outcome

Tropomyosin (Tm) binding affinitysurrogate

Characterization of novel TNNT1 mutations reveals decreased tropomyosin binding affinity, providing insights into the pathogenesis of nemaline myopathies.

Cite This Study

Amarasinghe et al. (2016) studied this question.

synapsesocial.com/papers/6a19639bc3e09444f388cd55 https://doi.org/10.1021/acs.biochem.6b00577

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Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider