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4q35 – A specific location on chromosome 4 where a genetic deletion linked to FSHD Type 1 occurs. The “q” refers to the long arm of the chromosome, and “35” is the region’s address.
4q35 genes – A group of genes found in the 4q35 region. Some of these genes are controlled by a section of repeated DNA called D4Z4.
Allele – A different version of a gene at a specific location on a chromosome. You inherit one allele from each parent, and they influence traits like eye color.
Antibody – A type of protein made by the immune system that sticks to harmful invaders, like viruses, to help destroy them. Scientists also use antibodies to find and study specific molecules.
Antisense oligomers – Short strands of genetic material that attach to RNA and block it from being used to make proteins.
Autophagy – The process where cells break down and remove waste or damaged parts using special compartments called lysosomes.
Binding – When one molecule attaches to another, changing its shape or function.
Biomarker – A measurable sign of health or disease, like a blood test result or muscle strength measurement. Some biomarkers help diagnose a disease, while others show if a treatment is working.
Chromatin – A mix of DNA and proteins that help pack DNA into a cell’s nucleus. Chromatin also plays a role in protecting DNA and controlling gene activity.
Chromosome – A structure inside a cell’s nucleus made of DNA and proteins. Humans have 23 pairs of chromosomes, which carry genes and other important DNA sequences.
Clinical trial – A research study that tests new treatments or medical approaches in people to see if they are safe and effective.
Cytoplasm – The jelly-like substance inside a cell that surrounds the nucleus and holds the cell’s other parts.
D4Z4 – A repeated section of DNA on chromosome 4. The number of repeats varies among people and helps determine if someone has FSHD Type 1. Each repeat contains a gene called DUX4.
Deletion – When a part of DNA is missing. In FSHD, the deletion of certain repeats in the D4Z4 region is linked to the disease.
Differentiation – The process where simple cells change into specific types, like muscle or skin cells. This happens during development and also in adults when new cells are needed.
DNA – The molecule that carries genetic instructions for how an organism grows and functions. It is made up of four chemical building blocks arranged in a specific sequence.
DUX4 – A gene found in each D4Z4 repeat on chromosome 4. When this gene is mistakenly activated in muscle cells, it may contribute to FSHD.
Epigenetics – Changes in how genes work that do not alter the actual DNA sequence. These changes, like adding chemical tags to DNA, can turn genes on or off and may be passed down through generations.
Expression profiling – A way to measure all the RNA in a cell at a given moment to see which genes are active and how they affect the cell’s function.
FISH (fluorescent in situ hybridization) – A lab technique that uses glowing probes to find and highlight specific DNA sequences on chromosomes.
Gene – A section of DNA that contains instructions for making a specific protein or controlling a trait.
Gene expression – The process of turning genetic instructions into an observable trait by creating an RNA copy of a gene.
Gene locus – The specific location of a gene on a chromosome.
Genotype – The complete genetic makeup of an individual, or the specific genetic version of a particular trait.
Germ line – The cells that produce sperm or eggs and pass genetic information to the next generation.
Homeobox – A special DNA sequence found in genes that control how an organism’s body develops.
Histones – Proteins that DNA wraps around to help package it inside the cell’s nucleus. They also play a role in turning genes on and off.
Immortalized cells – Cells that can keep dividing indefinitely in a lab, unlike normal cells, which stop dividing over time.
Immunocompromised – A condition where the immune system is weak and cannot fight off infections properly.
Innervate – When a nerve forms a working connection with a muscle or other tissue.
Longitudinal study – A research study that tracks the same people over time to observe changes in health or behavior.
Lysosome – A small compartment inside a cell that breaks down waste and unwanted materials.
Magnetic resonance imaging (MRI) – A medical imaging technique that uses magnets and radio waves to create detailed pictures of the body’s organs and tissues.
Magnetic resonance spectroscopy (MRS) – A technique that uses MRI technology to study the chemical makeup of tissues and molecules.
Methylation – A chemical change to DNA that can turn genes on or off. Some methylation changes can be inherited.
Molecular pathway – A series of chemical reactions inside a cell that control important functions, like how a cell responds to signals.
Mutation – A change in the DNA sequence that may affect how a gene works, sometimes leading to disease.
Myocyte – A muscle cell that helps muscles contract and move.
Nucleus – The part of a cell that holds DNA and controls gene activity.
Organelle – A small, specialized structure inside a cell that performs a specific function, like the nucleus or lysosome.
Pathophysiology – The way a disease develops and affects the body.
Phenotype – The physical traits and characteristics of an organism, influenced by both genes and the environment.
Pluripotent cells – A type of stem cell that can turn into many different kinds of cells. Scientists can create these cells from adult cells in a lab.
Polycomb – A group of proteins that can turn off genes by modifying how DNA is packaged in the cell.
Protein – A molecule made of amino acids that performs many jobs in the body, like building structures, speeding up chemical reactions, and carrying signals.
Protein synthesis – The process of making proteins using instructions from DNA. First, DNA is copied into RNA, and then RNA is used to build a protein.
Reprogramming – Changing one type of cell into another by first making it more flexible (pluripotent) and then guiding it to become a new type of cell.
RNA (Ribonucleic acid) – A molecule similar to DNA that helps carry out genetic instructions by copying and translating DNA into proteins.
Somatic cell – Any cell in the body except for sperm or egg cells.
Stem cell – An unspecialized cell that can develop into different types of cells and make copies of itself.
Target – A molecule, like a protein or DNA, that can be affected by a drug or another biological signal.
Telomere – A protective cap at the end of a chromosome that helps prevent damage during cell division.
Transcription – The process of copying DNA into RNA so that the information can be used to make a protein.
Transgenic – An organism that has had a new gene added to its DNA to give it a new trait.
