Quick Answer: What Does LMNA Mean?

What is LMNA cardiomyopathy?

Introduction.

Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with autosomal dominant inheritance and variable expressivity of symptoms,1 such as early-onset atrioventricular (AV) block, supraventricular and ventricular arrhythmia (VA), and progressive DCM..

What does lamina mean in anatomy?

1 : a thin plate or scale : layer. 2 : either of two broad, flat plates of bone of a vertebra that is fused with and extends from the pedicle to the median line of the neural arch to form the base of the spinous process and that along with the pedicle forms the posterior part of the vertebral foramen.

What does lamin protein do?

Lamins, also known as nuclear lamins are fibrous proteins in type V intermediate filaments, providing structural function and transcriptional regulation in the cell nucleus. Nuclear lamins interact with inner nuclear membrane proteins to form the nuclear lamina on the interior of the nuclear envelope.

What is the relationship between genes and proteins and enzymes?

The three-dimensional structure of a protein, which is crucial for its function, is determined solely by the primary structure (linear sequence) of amino acids. Therefore, genes can control enzyme function by controlling the primary structure of proteins.

How can I lower my Progerin levels naturally?

A substance in broccoli called sulforaphane can help break down progerin. Research on the effects of sulforaphane on progerin in HGPS cells may provide insight into normal aging.

Is Progerin a toxic protein?

As HGPS is the dominant negative mutation in the LMNA gene that results in accumulation of lamin A which is toxic protein progerin [18,19].

What does the LMNA gene code for?

The LMNA gene provides instructions for making several slightly different proteins called lamins. The two major proteins produced from this gene, lamin A and lamin C, are made in most of the body’s cells. These proteins are made up of a nearly identical sequence of protein building blocks (amino acids).

How do I lower Progerin?

Drugs acting at both natural aging and HGPS are likely to exist. For example, vitamin D3 reduces the progerin production and alleviates most HGPS features, and also slows down epigenetic aging in overweight and obese non-HGPS individuals with suboptimal vitamin D status.

What causes Laminopathy?

Laminopathies are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina.

Can progeria be inherited?

Progeria is caused by a genetic variant in the LMNA gene . This variant usually arises as a new change in the genetic material and is not inherited from a parent. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing .

Does Progerin cause aging?

The shortened, mutated version of this protein is called progerin, and it causes the nucleus and cell to become unstable, leading to premature aging of the cells. “Those with progeria have a mutation in their DNA that codes for these proteins,” Gonzalo said. “The presence of progerin makes a mess in the nucleus.”

What is my in medical terms?

Updated . The prefix myo- or my- means muscle. It is used in a number of medical terms in reference to muscles or muscle-related disease.

What does Lamin mean in medical terms?

(lam′ĭn) A filament, intermediate in size between microtubules and microfilaments, that makes up a part of the cytoskeleton of the nucleus of a cell. Medical Dictionary, © 2009 Farlex and Partners.

What chromosome is LMNA on?

LMNA, located on human chromosome 1q21. 2–21.3, encodes the A-type nuclear lamins.

What type of mutation causes progeria?

A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the center (nucleus) of a cell together. When this gene has a defect (mutation), an abnormal form of the lamin A protein called progerin is produced and makes cells unstable.