<span>Lafora disease is the most severe teenage-onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of glycogen, and a neurodegenerative disorder exhibiting an unusual generalized organellar disintegration. The disease is caused by mutations of the EPM2A gene, which encodes two isoforms of the laforin protein tyrosine phosphatase, having alternate carboxyl termini, one localized in the cytoplasm (endoplasmic reticulum) and the other in the nucleus. To date, all documented disease mutations, including the knockout mouse model deletion, have been in the segment of the protein common to both isoforms. It is therefore not known whether dysfunction of the cytoplasmic, nuclear, or both isoforms leads to the disease. In the present work, we identify six novel mutations, one of which, c.950insT (Q319fs), is the first mutation specific to the cytoplasmic laforin isoform, implicating this isoform in disease pathogenesis. To confirm this mutation's deleterious effect on laforin, we studied the resultant protein's subcellular localization and function and show a drastic reduction in its phosphatase activity, despite maintenance of its location at the endoplasmic reticulum.
I got my information from </span>https://www.ncbi.nlm.nih.gov/pubmed/14722920
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relating to or determined by the origin, development, or causal antecedents of something
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3. An even number of chromosomes are required for synapsis during prophase I and proper pairing during metaphase
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Mules are hybrids of a cross between a female horse and a male donkey. Horses contain 64 chromosomes while donkeys contain 63 chromosomes in their somatic cells respectively. This means that they each produce 32 and 31 chromosomes respectively during meiosis. A mule, hence, contains 32+31= 63 chromosomes in their somatic cells.
This chromosome number in mules are uneven for meiosis to occur because meiotic division requires that an even number of homologous chromosomes pair together in a process called SYNAPSIS during prophase I of meiosis I. This is impossible in a mule because of the uneven number of chromosomes in its cells.
Also, during metaphase of meiosis, the homologous chromosomes need to be properly aligned at the equator for separation to occur. This is also impossible in a mule considering the number of chromosomes that don't add up.
Due to this reason of unevenness in the number of chromosomes present in a mule, meiosis will not occur and if meiosis (gamete formation) does not occur, reproduction cannot take place. Therefore, the mule is a sterile species i.e. cannot produce offsprings via sexual reproduction.
