Human Non-Mendelian Inheritance Disorders

Dear Colleagues,

Non-Mendelian disorders are a group of congenital diseases affecting growth and development which do not obey at least one Mendelian law and their traits are not separated into dominant and recessive. Disorders that follow non-mendelian inheritance pattern are: a. mitochondrial diseases, b. genomic imprinting/UPD disorders, and c. trinucleotide repeat disorders.

Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial proteins or proteins involved in mitochondrial function. Among the most known mitochondrial diseases are: 1. Mitochondrial encephalopathy, 2. Lactic acidosis and stroke-like episodes (MELAS) syndrome, 3. Leber hereditary optic neuropathy (LHON), 4. Leigh syndrome, 5. Kearns-Sayre syndrome (KSS) and 6. Myoclonic epilepsy and ragged-red fiber disease (MERRF).

Genomic imprinting disorders are caused by mutations or deletions in chromosomal regions with specific methylation pattern or changes of methylation pattern of specific areas/genes or because of uniparental disomy (UPD). Human genes’ expressivity is regulated by epigenetic mechanisms such as methylation, that allows expression of genes from one of the paternal alleles. Some of the most known syndromes characterized by changes in these critical areas are Prader-Willi/Angelman, Beckwith-Wiedemann and Silver-Russel. These syndromes display known manifestations that synthesize a distinct phenotype for each condition.

Trinucleotide repeat expansion (TNR) disorders is referred to a group of diseases that is based to instability of repetitive DNA sequences within the genome and is recognized as a major cause of neurological and neuromuscular disorders. Some of the most known trinucleotide repeat disorders are Fragile X Syndrome, Myotonic Dystrophy, Huntington’s Disease and Spinal and Bulbar Muscular Atrophy. Aim of this topic is to collect data and add information on the current knowledge about new syndromes or phenotypes on Human Non-Mendelian Inheritance Disorders.

Dr. Spiros Vittas
Guest Editor

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• imprinting disorders
• methylation
• genomic imprinting
• imprinted genes
• mitochondrial diseases
• mitochondrial DNA
• trinucleotide repeat diseases