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Related Concept Videos

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe.

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|November 17, 2025
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Truncating variants in TTN exon 363 cause titinopathies, leading to young-onset distal myopathy. Phenotype severity depends on the second variant

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neuromuscular Disorders

Background:

  • Titin (TTN) is the largest human protein, crucial for sarcomere structure and function.
  • The TTN gene's M-band region (exons 359-364) is vital for sarcomere integrity.
  • Exon 363 is implicated in titinopathies, particularly young-onset recessive distal titinopathy.

Purpose of the Study:

  • To investigate the role of TTN exon 363 in titinopathies.
  • To characterize the clinical and genetic spectrum of patients with TTN exon 363 variants.

Main Methods:

  • Multicenter study involving six patients from five families with confirmed recessive titinopathy and exon 363 variants.
  • Clinical evaluations and genetic testing, including segregation analysis, were performed.

Main Results:

  • A novel truncating variant (c.107578C>T) in exon 363 was identified in four patients with juvenile/young-adult onset recessive distal titinopathy.
  • A frameshift deletion (c.107430delA) in exon 363 caused congenital myopathy in a Belgian family, presenting a more severe phenotype.
  • Patients exhibited progressive lower limb weakness, often with asymmetric involvement; cardiac or respiratory complications were absent.

Conclusions:

  • This study highlights the pathogenic significance of TTN exon 363 variants in titinopathies.
  • Truncating exon 363 variants contribute to young and early-onset titinopathy, sometimes with contractures.
  • Phenotype severity is modulated by the location and exon usage of the second pathogenic variant.