Investigating the genetic causes of tremor (hand tremors) in the members of an Iranian affected family

Authors

Samar Madanpisheh Department of Molecular and Cellular Biology, Faculty of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, ACECR, Tehran, Iran Author
Mouness Rahimian Department of Molecular and Cellular Biology, Faculty of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, ACECR, Tehran, Iran. Author
Zahra Mirzaie Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. Author
Seyed Abolhassan Shahzadeh Fazeli* Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. Department of Molecular and Cellular Biology, Faculty of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, ACECR, Tehran, Iran. S.A. Shahzadeh Fazeli MD, Ph.D, Professor of molecular genetic, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran Author

Keywords:

Hand tremor, whole exome sequencing, genetic mutation, bioinformatics analysis, tremor

Abstract

Background: The aim of this study was to investigate the genetic factors involved in the occurrence of tremor in an Iranian family with a history of these symptoms.

Methods: First, the family tree was drawn by identifying affected and healthy members. DNA samples were extracted from family members and whole exome sequencing was used to examine genetic mutations. Data obtained from WES were examined using bioinformatic analyses and the identified mutations were confirmed using Sanger sequencing. Statistical analyses were performed to evaluate the genetic correlation between the identified mutations and clinical symptoms.

Results: two genes, TTN and SH3TC2, were identified as candidate genes. The mutation in the TTN gene was observed as heterozygous (GC) in the proband (II-2), the mother (II-2), and the son (III-3), while the two daughters of the family (III-1 and III-2) had the normal genotype (GG). Bioinformatics analyses showed that this mutation has a potential impact on the function of the Titin protein, which may play a key role in the occurrence of tremor. In contrast, the mutation identified in the SH3TC2 gene was detected as heterozygous (CT) only in the proband and the mother and was not present in other family members. Sequencing of the trench confirmed the mutation in the TTN gene, but no significant association was observed between the SH3TC2 gene mutation and the occurrence of the disease.

Conclusion: mutation in the TTN gene may play key role in the occurrence of tremor in this family, while the mutation in the SH3TC2 gene is probably a secondary factor. These results emphasize the importance of investigating genetic factors in families with tremor and may help develop new diagnostic and therapeutic approaches. Further studies in larger populations are recommended to confirm these findings.