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11. Neurotrophins © SPMM Course 9. Glycine  Glycine is the primary inhibitory neurotransmitter in the spinal cord  It has the simplest structure of all aminoacids  It is synthesized primarily from serine by serine trans-hydroxymethylase and glycerate dehydr...

12. Some clinical implications © SPMM Course 12. Some clinical implications β ADRENOCEPTOR Chronic antidepressant treatment induces a reduction in β adrenoreceptor density around 2 weeks after starting antidepressants; this correlates with therapeutic effects...

1. Cell cycle

2. Cell division

Meiotic division © SPMM Course Cell cycle Each cell undergoes a natural cycle in terms of its replication and nucleic acid synthetic activity. The cell cycle consists of four separate phases: G1 phase, S phase, G2 phase and M phase. G1 stands for growth phase...

3. Chromosomal Numbers: © SPMM Course  The main differences are the occurrence of synapsis (crossing over) in the prolonged prophase phase and non-separation of sister chromatids during anaphase 1, leading to reduced (half) chromosomal numbers in daughter cel...

Important trisomies/monosomies © SPMM Course Sometimes, non-disjunction can occur during mitosis immediately after two gametes have fused. This leads to the formation of two cell lineages, each with a different chromosomal make-up. This occurs more frequently ...

4. DNA & RNA structure © SPMM Course Assembly’ may be affected more than others. Mathematical ability may also be lower than expected. This specific profile persists into adulthood. Females with a 45X karyotype (Turner syndrome) may have higher verbal skills i...

5. Synthesis of DNA, RNA & Protein © SPMM Course sequences that are non-coding (called introns) at various positions. The introns contain three types of sequences (satellite, mini and microsatellite: see the graph below). All introns are removed from the mRNA ...

6. Types of mutations © SPMM Course folded or aberrant proteins to enter lysosomes for destruction. Study of mRNAs using microchip arrays is called transcriptomics. Note that microsatellite tandem repeats give rise to trinucleotide sequences: these are linked ...

Some deletion syndromes of psychiatric relevance © SPMM Course is replaced by another purine or a pyrimidine replaced by another pyrimidine (e.g. A to G). It is called transversion if a purine is replaced by a pyrimidine or vice versa (e.g. A to T).  Accordin...

7. Mendelian inheritance © SPMM Course Disorder Location and mode of transmission Features DiGeorge (Velocardiofacial) 22q11.2 Autosomal dominant, 50% risk to offsprings, 5-10% risk of deletion in parents. If offspring has the deletion, then 25% chance of schi...

A. Single gene inheritance (Mendelian) disorders

Autosomal dominant disorders © SPMM Course determining white colour and one determining black colour in the father, then these two alleles segregate and only one of them could be passed on to the second generation from each parent. This will produce three poss...

Autosomal recessive disorders

Sex-linked disorders © SPMM Course penetrance increases the likelihood of having an unaffected child. The variable expression refers to differences in severity of the disease expressed. A mildly affected parent may have a severely affected child. Spontaneous d...

X-linked recessive disorders © SPMM Course X-linked recessive disorders If a recessive disease-causing mutation occurs on the single X chromosome of a man, this is sufficient to cause disease, as another X chromosome is not existent to compensate any deficienc...

X-linked dominant disorders