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GlossaryLMNA gene

provides instructions for making proteins crucial for cell nucleus structure

The LMNA gene, also known as the Lamin A/C gene, provides instructions for making proteins called lamin A and lamin C, which are crucial for maintaining the structure and function of the cell nucleus. Mutations in this gene can lead to a variety of disorders, including certain types of muscular dystrophy, cardiomyopathy, and progeria, a condition that causes accelerated aging.

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research Hutchinson-Gilford Progeria Syndrome: Report of 2 Cases and a Novel LMNA Mutation in China

3 citations, September 2013 in “Journal of the American Academy of Dermatology”

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations

115 citations, October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

research Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment

39 citations, January 2019 in “Cells”

Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.

research Genetics of Progeria and Aging

January 2018 in “Elsevier eBooks”

Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.

A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis

research A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis

5 citations, May 2011 in “European Journal of Medical Genetics”

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

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